REPORT PRACTICUM OF GENETICS
“DETECTION OF CHARACTER ENDOWMENT
AND PEDIGREE “
By
Group 6:
ANNISA NUR IMAMAH (100210103011)
TIAS RAHAYU (100210103064)
TRI SETYA PUJA K. (100210103066)
MAFIDATUL ILMI (100210103090)
BIOLOGY EDUCATION STUDY PROGRAM
DEPARTMENT OF MATHEMATICS AND SCIENCE EDUCATION
FACULTY OF TEACHER TRAINING AND EDUCATION
UNIVERSITY OF JEMBER
DEPARTMENT OF MATHEMATICS AND SCIENCE EDUCATION
FACULTY OF TEACHER TRAINING AND EDUCATION
UNIVERSITY OF JEMBER
2011
I. TITLE : Detection of Character Endowment and Pedigree
II. PURPOSE :
· To study endowment pattern of character in society
· To make pedigree of deviation character
III. BASIC THEORY
Autosomal Dominant Inheritance
Hereditary disease is a disease caused by inherited genetic disorder of the parents and children. However, that does not mean any genetic disorder is certainly manifested in the real family tree. Sometimes hidden until sparked by environmental factors such as pollutants, diet is wrong, etc.. Congenital abnormalities is a disorder in the structure, function or body metabolism that are found in the baby when she was born. About 3-4% of newborns have severe congenital abnormalities. Some newly discovered abnormalities when the child begins to grow, which is about 7.5% was diagnosed when the child was 5 years old, but most are mild. The older a woman while pregnant (especially above 35 years), the greater the possibility of chromosomal abnormalities in the fetus. (Medicinesia, 2010)
Autosomal inheritance in humans can be distinguished from the dominant or recessive. A disease or disorder is said decrease through an autosomal dominant disorder or disease arising out though there is only one defective gene from one parent. For comparison, autosomal recessive disease will appear when an individual has two copies of the mutant gene. (Medicinesia, 2010)
Characterize the nature of the autosomal dominant inheritance, among others:
1. Trait may exist in men and women
2. Trait was also present in one parent pair
3. About 50% of children born will have this property even if one pair does not have this trait
4. The pattern of inheritance is vertical, meaning that each generation there are definitely there that have these trait.
5. When the nature of the inherited form of hereditary diseases, children who do not suffer from this disease when a normal married couple, then the resulting offspring will also be normal. (Medicinesia, 2010)
Description
Syndactyly is an abnormality in the form of finger sticking two fingers or more so that the palm of the hand to be shaped like a duck or goose feet (webbed fingers). Under normal circumstances, there are a number of genes that carry "command" to the row of cells between two fingers to die, so that both fingers are to be separated perfectly. In this disorder, the gene was disrupted. As a result, the fingers remain fused and not separated into five fingers. (AyahBunda, 2010)
Fingers are often experienced is sticking middle finger with the index finger, middle finger with the ring finger, or all three. Sindactyly occurs in 1 in 2,500 births. More common in male babies than female babies. (AyahBunda, 2010)
There are varying degrees of severity which can include the skin between the affected digits being partially fused (incomplete syndactyly) or fully fused (complex syndactyly). In some instances the bones and sometimes the nails are fused together (complex syndactyly). (Arnold, Paul. 2009)
Syndactyly is a cosmetic condition in that it does not affect any abilities such as walking, running, or handling objects. There is no evidence to suggest that having fully or partially webbed toes affects swimming ability. Syndactyly occurs on its own as an isolated condition or as a feature of several other conditions, including Apert syndrome and Holt-Oram syndrome. (Arnold, Paul. 2009)
Syndactyly is a failure of differentiation in which the fingers fail to separate into individual appendages. This separation usually occurs during the sixth and eighth weeks of embryologic development. The root words of the term syndactyly are derived from the Greek words syn, meaning together, and dactyly, meaning fingers or digits. (Deune, E Gene. 2010)
The Form of Syndactyly
The form there is sticked only one-third of the length of the finger, or attached to each other along the finger. Attachment can also occur only in the skin tissue, tendons (soft tissues), even on the second finger adjacent bone. These abnormalities can disrupt the process of growth and development because the finger is attached inhibit the growth of the movement of a finger other fingers on the side. If not addressed, can interfere with mental development of children. Sometimes performed a skin graft to cover part of the wound, thus requiring treatment in hospital longer than polydactyly handling operations (Meilankiky, 2011).
Causes of Syndactyly
The cause is mostly due to genetic disorders or conditions in the uterus that causes abnormal fetal position, amniotic fluid broke, or certain drugs consumed by the mother during pregnancy. If the cause is due to genetic abnormalities, it can not do prevention. The possibilities can be minimized if the cause is drugs consumed by the mother during pregnancy. (AyahBunda, 2010)
Meanwhile, according to Paul Arnold (2009) states the cause of syndactyly is a failure of the skin and/or bones between digits to separate during development, and the molecular blame for this is sometimes laid at the door of a protein called sentrin which determines when cells die. During embryonic development this usually ensures that there isn't any unusual skin growth between digits. However, if there is a faulty sentrin protein then programmed cell death fails, and webbed fingers or toes can result. In many cases gene mutations are to blame for the faulty protein. Other genes have also been heavily implicated in the causes of syndactyly. However, it is also likely that in some instances there are environmental causes for webbed toes or feet, and these might be environmental toxins and pollutants, or abnormalities in the womb.
The Genetics of Syndactyly
Several candidate genes and chromosomal regions have been discovered that may contribute to the various types of syndactyly. There is so much that is unknown, including the number and types of genes, and the nature of the mutations that cause syndactyly, or how those mutations cause the abnormality.
- Syndactyly type 1 is the most common type of isolated syndactyly, and there is complete or partial webbing between the third and fourth fingers and/or the second and third toes. A region on chromosome two that is near to the HOXD cluster has been identified as containing a possible candidate gene. (Arnold, Paul. 2009)
- Syndactyly type 2 where webbing can occur between the third and fourth fingers, and there may be an additional digit, can be caused by mutations in the HOX 13 gene on chromosome two. Hox genes are the pattern formation genes that are involved in controlling how body patterns are laid down and ensuring that our body parts such as limbs are in the correct place. (Arnold, Paul. 2009)
There are numerous genes involved in limb formation and they encode proteins such as fibroblast growth factors and bone morphogenic proteins, and candidate genes may exist here. (Arnold, Paul. 2009)
Classification of Syndactyly
Classification of syndactyly is based on the severity of the clinical presentation.
· The mildest form is simple syndactyly, which refers to fingers joined only by soft tissue.
· Incomplete simple syndactyly is when the soft-tissue union is only partial and does not extend to the fingertips.
(Dorsal view of a hand demonstrating simple incomplete syndactyly between the left long finger and ring finger. Note the incidental café-au-lait spot)
(Palmar view of hand with syndactyly. The level of the syndactyly, just proximal to the proximal interphalangeal (PIP) joint, can be clearly seen on the palmar view)
· When the soft tissue union extends to the fingertip, the condition is referred to as complete simple syndactyly.
(Dorsal view of the hand of a 1-year-old child with a complete simple syndactyly. Note that both the long finger and the ring finger have distinct nail plates with a trough separating them)
Palmar view of the hand of a 1-year-old child with a complete simple syndactyly.
- Complex syndactyly refers to fingers joined by bone or cartilaginous union, usually in a side-to-side fashion at the distal phalanges.
- The most severe form is classified as complicated syndactyly, which refers to fingers joined by bony fusion other than a side-to-side fashion and can include bony abnormalities, such as extra, missing, or duplicated phalanges and abnormally shaped bones, such as delta phalanges (see image below). Abnormalities in the musculotendinous and neurovascular structures may also be present..
(Radiograph of the left hand of a patient with Apert syndrome (type III). Note the complicated syndactyly with osseous union in the distal phalanges of all the fingers. Symphalangism is present between the proximal and middle phalanges, without the formation of a proximal interphalangeal (PIP) joint in the ring, long, and index fingers)
In simple syndactyly, the third web space between the long finger and the ring finger is the area most commonly involved, followed by the fourth, second, and (rarely) first web spaces. Bilateral involvement is found in 50% of patients.
Syndactyly can be an isolated finding, or it can be found in association other abnormalities, such as polydactyly, cleft hands, ring constrictions, or craniofacial syndromes (e.g., Apert syndrome). (Deune, E Gene. 2010)
Associated syndromes
Syndactyly often can be associated with other syndromes, particularly the craniofacial syndromes, of which Apert syndrome is the best known. Another syndrome is Poland syndrome, in which the pectoralis muscle abnormality is found in association with symbrachydactyly and/or other anomalies of the ipsilateral upper extremity. Constriction band syndrome can be associated with syndactyly, but the etiology of the syndactyly is different.
Apert syndrome
Apert syndrome, or acrocephalosyndactyly, is a rare anomaly, occurring in 1 per 160,000-200,000 live births. Besides the characteristic facial anomalies of Apert syndrome, it is also defined by the associated upper- and lower-limb anomalies. The anomalies in the hands are mirror images of each other and are characterized by the following 4 common features:
1. radial deviation of a short thumb as a result of an abnormally shaped proximal phalanx (ie, delta phalanx);
2. complex syndactyly of the index, long, and ring fingers;
3. symbrachyphalangism of the central segments of the index, long, ring, and small fingers;
4. simple syndactyly of the web space between the ring and small fingers.
The web space between the thumb and the index finger is variable, and the extent of syndactyly at this web space serves as the basis for the classification of Apert syndactyly into 3 types:
· Type I is the most common and the least severe of the three types. The thumb is foreshortened and associated with a radial clinodactyly as a result of a delta phalanx of the proximal phalanx. Although it is separate from the index finger, the first web space is shallow. A complex syndactyly includes the index, long, and ring fingers because of osseous or cartilaginous union of the distal phalanges. Simple syndactyly of the small and ring fingers is present; this syndactyly may be complete or incomplete. The distal interphalangeal joint of the small finger is well formed and functional. Type I hands are often referred to as spade hands.
Dorsal view of hand of a 6-month-old patient with type I Apert syndrome. Note that the thumb is separate.
Radial view of hand of a 6-month-old patient with type I Apert syndrome. The index fingernail is separate, and the syndactyly is complete. The small fingernail is also separate from the rest of the hand. A simple syndactyly between the small finger and the rest of the hand is present. Note that the broad thumb and the abnormal curvature of the thumb is due to the presence of a delta phalanx seen in the x-ray below.
Radiograph of hand of the 6-month-old patient with type I Apert syndrome demonstrates the distinctive characteristics of Apert syndrome. In the small finger, the distal interphalangeal (DIP) is formed. Although a rudimentary proximal interphalangeal (PIP) joint is present, clinically this joint is stiff. In the ring, long, and index fingers, no PIP joint is present, and symphalangism is present between the middle and the proximal phalanges. The distal phalanges of the ring and long finger are fused. In the thumb, the proximal phalanx is shaped abnormally and is referred to as the delta phalanx. Synostosis of the ring and the small finger metacarpals is present.
- Type II is more severe and is characterized by a simple incomplete or complete syndactyly of the thumb with the index ray, without any osseous union. The thumbnail matrix remains separate from the index fingernail. The hand has a large, concave palm. The bony union of the distal phalanges of the index, long, and ring fingers are more extensive than in type I. The ring finger–small finger syndactyly remains simple but complete. Type II hands have been referred to as mitten hands or spoon hands.
Apert type II hand. Note the complete syndactyly between the ring and the small fingers. The patient's hand was complicated by a chronic paronychia and skin maceration preoperatively.
- Type III is the most severe form and, fortunately, the least common. A tight osseous or cartilaginous union is present between all 5 fingers. All 5 nailplates are conjoined, and they sometimes have longitudinal ridges, which indicate separate underlying distal phalanges. The thumb is indistinguishable from the index ray. The small finger, although joined by a common fingernail, does not have an osseous union at the distal phalanx and remains a simple but complete syndactyly. Usually, metacarpal synostosis of the small and ring finger rays is present. Type III hands have been termed rosebud or hoof hands (see first 2 images below). Radiographs are difficult to obtain and interpret because of the overlap of osseous structures (see third image below).
Apert syndrome (type III), dorsal view.
Apert syndrome (type III), volar view.
Radiograph of the left hand of a patient with Apert syndrome (type III). Note the complicated syndactyly with osseous union in the distal phalanges of all the fingers. Symphalangism is present between the proximal and middle phalanges, without the formation of a proximal interphalangeal (PIP) joint in the ring, long, and index fingers.
As stated, the goal of treating complex syndactyly is the surgical release of the fingers to increase the functionality of the hand. Timing of the surgery is critical because the child requires multiple operations for other abnormalities of the cranium, midface, and orbits associated with Apert syndrome.
Poland syndrome
Poland syndrome is a sporadic congenital anomaly characterized by the absence of the sternal head of the pectoralis major muscle, along with hypoplasia and/or aplasia of the breast or nipple, with deficiency of the subcutaneous fat and axillary hair. There can be associated abnormalities of the rib cage and the ipsilateral upper extremity. It was first described by Alfred Poland in 1841 as a medical student, when he reported the absence of the sternocostal portion of the pectoralis major muscle during a cadaver dissection. In the hand and fingers, anomalies include symphalangism, syndactyly with hypoplasia, brachydactyly, or aplasia of the fingers. Two variations of hand anomalies with syndactyly in patients with Poland syndrome can be seen in images below.
Poland Syndrome: Dorsal view of a left hand in a patient with Poland Syndrome with brachydactyly (short fingers) and adactyly (missing fingers) with associated simple incomplete syndactyly between the ring and the small finger
Volar view of the preceding hand in a patient affected with Poland syndrome.
Right hand of a patient with Poland syndrome. Note the incomplete syndactyly between the hypoplastic right index and long fingers
Volar view of the index and long finger in incomplete syndactyly in a patient with Poland syndrome.
Constriction band syndrome
The syndactyly found in constriction band syndrome (also known as amniotic band syndrome) is not the result of failure of differentiation during embryogenesis. In this condition, the fingers are already formed, and because of the injuries due to the constricting amniotic bands, the fingers heal together at the site of injury, causing postinjury syndactyly. The extent of involvement may be mild, with only a rudimentary small skin bridge connecting the 2 fingers (see images below).
Dorsal view of the right hand of a 1.5-year-old patient with constriction band syndrome. The fingers can still be identified individually. Note the presence of a fistula tract between the affected fingers, particularly between the long finger and ring finger.
Palmar view of the right hand of a 1.5-year-old patient with constriction band syndrome. The fingers can still be identified individually. Note the presence of a fistula tract between the affected fingers, particularly between the long finger and ring finger.
Right hand of a 1.5-year-old patient with constriction band syndrome. Radiograph demonstrates that the level of the amputation occurred at the proximal interphalangeal (PIP) joints.
The extent of involvement may be more severe, with a complete soft-tissue fusion in association with amputated fingers (see images below). previous normal web space
Dorsal view of left hand of a 1.5-year-old patient with constriction band syndrome. The left hand is more severely involved than the right, with all of the fingers being nearly indistinguishable from one another. Note the presence of pits between the fingers where normal webs would be. The most prominent one is between the ring and the small fingers. They often represent fistulas between the dorsal and the volar surface of the hand and are often the only thing remaining of the.
Volar view of left hand of a 1.5-year-old patient with constriction band syndrome. The left hand is more severely involved than the right, with all of the fingers being nearly indistinguishable from one another. Note the presence of a prominet fistula between the small finger and ring finger.
Radiograph of left hand of a 1.5-year-old patient with constriction band syndrome. The level of amputation is through the midportion of the proximal phalanges of the involved fingers.
Occasionally, epithelialized sinuses or fistula tracts can be found usually proximal to the level of the syndactyly (see images below). The finger distal to the constriction ring is usually atrophic, or it has been amputated in utero as a result of ischemia. These findings in the fingers may be isolated or in association with other constrictions on the proximal arm, leg, or face.
Dorsal view of the right hand of a 1.5-year-old patient with constriction band syndrome. The fingers can still be identified individually. Note the presence of a fistula tract between the affected fingers, particularly between the long finger and ring finger.
Palmar view of the right hand of a 1.5-year-old patient with constriction band syndrome. The fingers can still be identified individually. Note the presence of a fistula tract between the affected fingers, particularly between the long finger and ring finger.
Right hand of a 1.5-year-old patient with constriction band syndrome. Radiograph demonstrates that the level of the amputation occurred at the proximal interphalangeal (PIP) joints.
If the syndactyly is minimal, standard techniques and skin grafts may be used to release the syndactyly (see image below).
Image of the left hand of a 1.5-year-old patient with constriction band syndrome after a second reconstructive procedure following release of the second and fourth web spaces. The syndactyly partially recurred because of a skin-graft loss. During the second-stage operation to separate the long finger and ring finger, the recurrence in the second and fourth web spaces were re-revised. Thus, sutures are present on both sides of the ring finger and long finger.
If sinus tracts or fistulas exist within the syndactyly, these tracts can often be released to reveal epithelialized web spaces, which do not require skin grafts (see image below). The markings made prior to the syndactyly then require modification.
Palmar view of the right hand of a 1.5-year-old patient with constriction band syndrome after a previously staged syndactyly release. No skin graft was needed for the release between the long and ring fingers. The patient also underwent revision of the web space between the index and long fingers. (Deune, E Gene. 2010)
Medically Important Genetic Syndromes involving Syndactyly
· In some cases there is only digital involvement without any associated problems- the most frequent of these is multi-digit syndactyly. Usually this involves the third and fourth fingers and the second and third toes. However, there may be other types featuring involvement of other digits, with or without a supernumerary fourth digit. In the more severe types, there is involvement of more digits and/or greater fusion. Altogether, there are at least five types that can be differentiated by the distribution of fusion of the digits. Essentially, the milder types are transmitted by autosomal dominant inheritance. Fusion of the fourth and fifth metacarpal bones in the hand is transmitted by X-linked inheritance. The more severe type involving fusion of all the digits is transmitted by autosomal recessive inheritance.
- Syndactyly can occur together with polydactyly (supernumerary digits). Apart from the syndactyly and the polydactyly, there are no other defects, although there may be variations in the structure of the earlobe. This condition is known as poly-syndactyly (see information sheet on polydactyly - supernumerary digits). In these cases, the pattern of inheritance is usually autosomal dominant. If the same condition is present in one of the parents, or in other relatives, this supports the autosomal dominant pattern of inheritance. Sometimes it only becomes apparent that an individual is affected after he or she has undergone a thorough examination in order to look for the condition. Without asking questions and making an in-depth investigation of the family, it is not always possible to know this, as some cases are expressed very mildly and other relatives may not be aware of them. If the same condition is found in other family members, including in one of the parents, it can be assumed that this is isolated (non-syndromic) poly-syndactyly as long as the affected individuals in the family have no other additional problems.
- Syndromic type - there are more than 150 syndromes involving other body systems. This is a heterogeneous group of disorders, including chromosome disorders and other syndromes resulting from a mutation in a single gene with varying patterns of inheritance. These syndromes may involve defects in the eye structure, small head circumference with mental retardation, cleft palate and lip, etc.
IV. METHOD OF RESEARCH
4.1. Tools and Materials
- Stationery
- Documentation appliance ( or camera of handycam)
- Voice tape recorder / tape of recorder ( if needed)
4.2. Work Prosedure
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V. RESULT OF RESEARCH
Nama Kepala Keluarga : Samsie
Alamat : Jl. Sumatra IV no 103
Nama Ayah : Samsie
Nama Ibu : Suriyah
Anak : 1. Eko
2. Rahmat Suryadi
3. Siti Jumatin
4. Sulasmi (probandus)
5. Sulistyawati
| Character | Father | Mother | The offspring ... | ||||
| 1st | 2nd | 3rd | 4th | 5th | |||
| Type of hair | Curly | Wave | Straight | Curly | Wave | Curly | Straight |
| Color of hair | Black | Black | Black | Black | Black | Black | Black |
| Baldness | Not | Not | Not | Not | Not | Not | Not |
| Eyebrow | Medium | Medium | Medium | Medium | Medium | Medium | Medium |
| Eye | Medium | Medium | Medium | Medium | Medium | Medium | Medium |
| Nose | Medium | Pointed | Pointed | Pointed | Pointed | Pointed | Pointed |
| Lips | Thin | Medium | Thin | Medium | Medium | Thin | Medium |
| Chin | Round | Oval | Round | Oval | Round | Oval | Round |
| Ear | Uncling | Uncling | Uncling | Uncling | Uncling | Uncling | Uncling |
| Color of skin | Nutbrown | White | Nutbrown | Nutbrown | Nutbrown | White | White |
| Hair of hand | Medium | Thin | Medium | Medium | Thin | Thin | Medium |
| Hair of leg | Medium | Thin | Medium | Medium | Thin | Thin | Medium |
| Fat/thin | Medium | Fat | Medium | Medium | Fat | Thin | Medium |
| Ratio body leg | 3:2 (normal) | 3:2 (normal) | 3:2 (normal) | 3:2 (normal) | 3:2 (normal) | Un normal | 3:2 (normal) |
| Number of digit finger | 10 | 10 | 10 | 10 | 10 | 0 | 10 |
| The length of index finger | Normal | Normal | Normal | Normal | Normal | Un normal | Normal |
| Number of digit toe | 10 | 10 | 10 | 10 | 10 | 8 | 10 |
| Blood group | O | O | O | O | O | O | O |
VI. ANALYSIS
Every child of both the parental marriage must have the same characteristics from one parent, or have combined properties of their parents. Genes are inherited traits displayed in a visible or also called the phenotype. These properties include the type of hair, hair color, shape eyebrows, eyes, nose, lips, chin, ears, skin color, and so forth.
At this time we investigated the Practicum on one gene abnormality. The first step is to determine the families who have abnormalities of genes to be investigated. After finding one of his patients with abnormalities in a family we do the interview at the family the patient to obtain information about the family tree. This data then will be used to create a pedigree (pedigree map). Then we did capture pictures / photos on the person concerned (probandus), abnormal body parts, probandus with praktikan, probandus with family and probandus, praktikan, probandus with family and praktikan. The final step is to analyze the inheritance of properties by providing code in pedigree genotyping.
In research that we do about tracking the inheritance of traits. Our group found a family in which one family member had a disorder that is syndactyly toes. The name of sufferer named Mrs. Sulasmi children of Mr. Samsie and Mrs. Suryah, female, born on April 25, 1980. The third child and has 3 siblings are normal. Address Sumatra IX/103 street . In daily activity, she use the Indonesian language to communicate with others but sometimes using java language muddy.
The characteristics of probandus that are different from normal human in general in physical terms. From the physical characteristics probandus has normal facial shape with both hands but no fingers or palms. Tall and thin, the condition of your left foot on the toe syndactyly which abnormalities of the toes sticking to the forefinger, middle and ring (there is a membrane between the third finger). In the eyes look a bit cross-eyed, at the time of speaking is not so clear because of its tooth structure is uneven (some teeth do not grow). While the psychic probandus is normal not to have any disturbance.
From the pedigree we get information about the brought of syndactyly, that can be seen the nature of that suffered by probandus syndactyly is inherited from the father's side Syndactyly (sticky fingers) is an autosomal disorder (so it can be revealed to anyone descendants) who inherited autosomal dominant S. A normal person is homozygous recessive ss In individuals heterozygous dominant degrees of gene expression can be different
The cause is mostly due to genetic disorders or conditions in the uterus that causes abnormal fetal position, amniotic fluid rupture, or certain drugs consumed by the mother during pregnancy. If the cause is due to genetic abnormalities, it can not do prevention. The possibilities can be minimized if the cause is drugs consumed by the mother during pregnancy. However, it can also be caused by genetic factors, gene carriers syndactyly nature is one example of genes that are affected by the somatic cells. Genes are the deciding factor that determines the physical properties of living things. Genes passed down from parents to their children, because in the case of syndactyly adrift by somatic cells means that these properties may exist in men and women, nature is also present in one parent pair, About 50% of children born will have this property even if one spouse does not have this property, The pattern of inheritance is vertical, meaning that each generation there are definitely there that have these properties, When the nature of the inherited form of hereditary diseases, children who do not suffer from this disease when a normal married couple, then the resulting offspring will also be normal (Medicinesia, 2010)
The possibility marriage of probandus father and probandus mother, that is:
Carrier Female Syndactyly married with Carier Male Syndactyly
P : ♀ Ss >< ♂ Ss
G : S, s S, s
| | S | s |
| S | SS | Ss |
| s | Ss | ss |
F1 :
Phenotype of child : Ss : 2 carrier (50%)
ss : 1 normal (25%)
SS : 1 suffer (25%)
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