PROPERTIES HEREDITY AND PEDIGREE MICROCEPHALY IDIOT GENETIC PRACTICAL REPORT

By : Group 5 Ester Yuliana M. Syahron M.B.B Diana Ulva Niswati Zahro (100210103008) (100210103032) (100210103053) (100210103068)

BIOLOGY EDUCATION STUDY PROGRAM DEPARTEMENT OF MATEMATHIC AND SCIENCE EDUCATION FACULTY OF TEACHER TRAINING AND EDUCATION JEMBER UNIVERSITY 2011

I.

Title PROPERTIES HEREDITY AND PEDIGREE MICROCEPHALI IDIOT

II.

Purpose 1. Create a pedigree deviation properties 2. Studying properties heredity pattern in public

III.

Basic Theory

The small material consist of organism is cell. In cell can the other organelle such as, mitochondrion, cytoplasm, ribosome until nucleus. In nucleus can the smooth thing who form line like stalk or curve. And consist of substance have color. That yarns called chromosome. In cell cant chromatin. The chromosome from Greek language chrome is color and come is body in 1902, Sutton , scientist of genetic say that the factor of inheritance have explain with Mendel in chromosome. Chromosome is the factor of inheritance generation from parents to the child. Chromosome only look with microscope. The size of chromosome is variation from one species to the other species. The human chromosome size until 6 micron. In cell can cleavage by self, chromosome like smooth fiber usually called fiber of

chromosome never same size and the generally of plant of chromosome have bigger than animal.(Guyton & Hall, 1996) Each chromosome have part who is narrow and look very light that called centromere. centromere devide chromosome became to hand. If chromosome look as line centromere look round. The chromosome look stalk and contain flat fiber. During that fiber have place in chromosome that called locus gene. The function of gene is controlling the characteristic of inheritance from parent to that child and controlling develop and also metabolism in organism. The gene consist of deoxyribonucleid acid. The genes in chromosome have task or the function who is different. For example controlling color in flower, a color of fur, a color of hair, taste of fruit and the other. Each body cell have couple of chromosome. The couple of chromosome have size from and composition same that called homolog chromosome. Each the couple of homolog chromosome different with the other couple of homolog chromosome. In the genetal cell such us egg cell and spermatozoa have a half from number chromosome in

body cell until say haploid(n chromosome). One set of haploid chromosome called genome. In organism usually have to genome or couple chromosome in body cell that called diploid(2n Chromosome). In 1956 Tjio and Levan say that nucleus in human body contain 46 chromosome. The human divide two type : a. autosome is chromosome cant determine sex from 46 chromosome in nucleus so that 44 chromosome(22 Couple In autosome). b Gonosome is the couple determine sex gonosome divide two kinds there are chromosome Y and chromosome X. Each children inheritance the gene from both parents. Phenotypes that appears from the properties of the resultant child is the phenotype of the two parents. But can be also some other properties / deviated. This may occur due to inheritance from his grandfather / grandmother. (Team of Lecture, 2011) In the widespread community, the nature of the deviation can lead to physical abnormalities like an idiot, embisil, debil, albino, dwarf, polydactily, etc. Sometimes each parents blame each other for the emergence of irregularities proficiency level, because they feel as a family disgrace. It is very important to examine the composition of maps pedigree (pedigree) for prospective couples who want to get married, to be known since the beginning of the risks that would occur at a later date. (Team of Lecture, 2011) Microcephalus is a measure of head circumference below the standard deviation of the average head circumference in children his age. Because small head size that is not optimal child development, lagging behind even his age. Children who suffer Microcephalus characterized by a very small head size or below normal standards. Scientists discover cause of child-headed is very small due to the evolution of the brain due to a single gene mutation. (Ratnadita, 2011) Mutations in single genes have a major influence on the size and shape of the human cerebral cortex, the part of the brain that plays an important role in high-level functions such as language skills, memory and consciousness (Ratnadita, 2011). Microcephalus caused by mutation in a gene called centrosomal NDE1. NDE1 centrosomal genes are genes involved in cell division (Ratnadita, 2011). Nde1 is localized to the mammalian microtubule organizing center. NDE1 is highly expressed in the developing cerebral cortex. NDE1 is essential for mitotic spindle assembly and function and is required for determining the mode and speed of cortical neural progenitor

cell mitosis. Homozygous mutation of NDE1 results in a small brain that affects the cerebral cortex preferentially (Feng, 2004). NDE1 is highly expressed in cortical neural progenitors and encodes a protein that localizes to the centrosome and mitotic spindle poles. Loss of NDE1 produces profound defects in cerebral cortical size and organization as well as less profound defects in somatic size (Alkuraya, 2011). Human NDE1 mutations cause a decrease of more than 50% in cortical volume and striking architectural disturbances that suggest severely abnormal neuronal migration. The more striking brain defects seen in humans harboring NDE1 mutations, especially the marked architectural defects, could reflect morphological or quantitative defects in the radial glial cells that normally act as guides for migrating neurons, or they could reflect the larger human brain and its increased opportunities for defects in neurogenesis (Quintyne et al. 1999). Humans with NDE1 mutations show modestly reduced height and weight as well as cerebral cortical size, though the defect in head circumference. Because NDE1, like many other microcephaly genes, is expressed in many developing tissues,13 the more severe involvement of the brain is generally regarded as reflecting its more limited ability to regulate its size, given that most brain cells are postmitotic, but other mechanisms might also contribute to this tissue specificity. (Alkuraya, 2011). Centrosomes are the primary site of microtubule nucleation, but once assembled, microtubules can have multiple fates. In neurons and polarized epithelial cells, in contrast, many microtubules are released from centrosomes and become reorganized into nonradial arrays that project into neurites or away from the apical face of the cell. (Keating et al. in Quintyne et al. 1999).

IV.

PRACTICAL METHODE 4.1 Tools 1. Writing instruments 2. Documentation tool 3. Sound recording device

4.2 Instruction Search one of people in society that fell deviation properties/characteristic

Come to see his family and asked to get the pedigree Come to see his family and asked to get the pedigree data data

Create the pedigree with a member of the family (or with the housholder) until up to the level of grandmother/grandfather of both parents Analyze the inheritance of the genetic code by giving the pedigree made

V. Result of Observation Children to Characteristic Hair type Hair colour Bald Eyebrow Eye Nose Lips Chin Ear Warna Kulit Hair hand Hair foot Fat/Thin The ratio of Curly Black Yes Rare Circle Flat-nose Normal Blunt Normal Olive Litle Dense Thin Normal Father Mother Straight Black No Heavy Circle Flat-nose Wide Oval Normal Black sweet Litle Litle Thin Normal Stand Black No Heavy Circle Flat-nose Wide Oval Normal Olive Litle Dense Thin Normal 1 Stand Black No Heavy Circle Flat-nose Wide Oval Normal Olive Litle Dense Thin Normal 2 ect

leg loss Number of fingers Length of index finger Number of foot Blood group normal normal normal normal

Normal

normal

normal

normal

normal 0

normal 0

normal 0

normal 0

From observation that had been done, we found a man that have a deviation properties that called microcephali idiots.

Picture 1. The man that have Microcephaly idiot

Picture 2. The man that have Microcephaly idiot and his father

Picture 3. The man that have Microcephaly idiot and members of group 5

Picture 4. The man that have Microcephaly idiot, his father and members of group 5

Marriage cousins

The Suffer

Picture 5. Pedigree of Munawirs Family

The identity of a man ie.: Name Sex Birth Addres s Parents Identity : Munawir : Male : Bondowoso, 15 April 1990 : Jambe Sari, Bondowoso : Father : Miadi (enterpreneur)

Mother

: Muzanni (wife)

He is second child of two brothers. He looks have a relatively round head, a flat face, give a somewhat oriental appearence to its victim, a furrowed tongue is frequently found, his head below normal standarts, the short body, can not speak, write or read, can not take a bath by him self, he like strike or broke the window if he can not do something.

VI.

DISCUSSION Base on the table we know inheritance in Miadis family. First, hair type of father

is curly whereas mother is straight, then the type of hair from the two children are standing. Hair colour of father and mother is black, so the color of the hair of his two children are black. In this family only father who go bald. The eyebrow in father is rare, mother is heavy and all son is heavy eye brow. Eye of Miadi is round as well as his wife so all types of eyes all round her. Type the nose of this family are all flat. Lips of the father is normal, but her mouth wide, so wide lips of all children. Of his father's blunt chin chin from his wife while the oval, so all children have a tapering chin. Ear normal in this family all, means nothing is disabled. The color of his skin is tan, while the sleek black color of her skin, all of his skin color is olive. In the hands of the feather are all a little family. While on his father's feet thick fur, his wife and two children have little thick fur on his legs like his father. All the skinny on this family. in this family the ratio of body and legs are all normal. The number of fingers, long fingers and toes the number of normal all nothing to the remarks. while her blood type is O all in this family. In this practical, we did experiment about pedigrees. We found microcephaly idiot person . We did classification or identification with that person and actually that person have disorder genetic. Microcephaly idiot is deviation that caused by mutation in cromosome 16 precisely on 16p13.11 that have symbol NDE1. This genes encodes a member of the nuclear distribution E (nude) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. The identity of person that have microcephaly idiot i.e. : Name : Munawir

Sex Birth Age Address Name of him parents

: Men : Bondowoso, 15 april 1990 : 21th : Grujugan Lor RT/RW 19/06 , Jambesari, Bondowoso : Father: Miadi Mother: Muzanni

Deviation properties

: Microcephaly idiot

When we met Munawir in his house, he played string in the ground. We interviewed with his family and neighbour about him. He stayed with his family ,there are father , Step mother and two brother. His mother was die when he was child. He was second child from two brothers. All of child have disorder genetic, his brother was die , usually called Bukhori . He also have microcephaly idiot. We studied about Munawir characteristic. That data is he have relatively around head, a flat face give a somewhat oriental appearance to its victim, a furrowed tongue is frequently found, this man is 21 years old with a mental age of one years, he have smaller head than that body, and he have short body. We met the person can not speak, and write. That also can not take a bath by his self and he like strike or broke the window if he couldnt doing something. He could eat 7 time in a day. His family was patiently with him. We also could information about generation disease, that happen in his family generation. Attention with this pedigree.

Marriage cousins

The Suffer Picture 6. Pedigree of Munawirs Family

Munawir and Bukhoiry are child from Miadi and Muzanni. Munawir and Bukhory have microcephaly idiot. That diagrams explain that carrier of microcephaly idiot (father and mother of Munawir) until father and mother marriage, that parents result all child have microcephaly idiot. That opportunity can draw with this explain. P1: Aa >< (normal) AA Aa (carrier) Aa (carrier) aa Aa (normal)

F1:

= normal = normal = normal = microcephaly idiot A

= 75% = 25% a Aa aa

A a

AA Aa

From the ratio genotype that conclude their children have Aa 50%, their child is AA 25%, their child is aa 25% their child have homozygote recesive with that desease. That explain suitable with reality. Their children have opportunity to that desease.

In his parent, his father called Miadi and his Mother called Muzanni. Father of Miadi have homozygote recesive with microcephaly idiot and mother of Miadi is normal. Mother of Muzanni was normal and father of muzanni have heterozygote recesive, normal. Father of Muzani is brother of Miadis father, so Muzani is Miadis cousin. This herdities table about Miadi can explain P1 : AA (normal) >< aa (microcephali idiot)

F1 : Aa (carrier) = normal 100% A a a Aa Aa A Aa Aa

That can explain, their child have oppurnity 100%. That child was heterozygote or carrier. That the picture suitable with reality. All of their child have carrier with microcephaly idiot. Meanwhile the heredity table of Muzani (Munawirs mother) i.e P1: AA (normal) >< Aa (carrier)

F1:

AA Aa (carrier)

= normal 25% = normal 75%

A A a AA Aa

A Aa Aa

Father of Muzani is brother of Miadis father, so the most probably have genotype heterozygot (Aa) as carrier. He marriage with Muzanis mother that have homozygot normal (AA). Probability of their offsprings is 25% normal (homozygot) and 75% carrier (normal with heterozygot)

The parents of Munawir have marriage cousin that same bring the carrier of microcephaly idiot. Inbreeding with family is not good, because if inbreeding can cause desease in this offspring.

VII.

CONCLUSION

From this practical and analysis data, we can get the conclusion about Microcephali idiot, i.e.: Microcephaly idiot is a measure of head circumference below the standard deviation of the average head circumference in children his age that caused by mutation in single genes have a major influence on the size and shape of the human cerebral cortex. The gene called centrosomal NDE1 that localized in cromosome 16 precisely on 16p13.11 or autosome gene. The characteristic of person that have microcephali idiot i.e: 1. have a relatively round head, 2. have a flat face, 3. give a somewhat oriental appearence to its victim, 4. have a furrowed tongue is frequently found, 5. his head below normal standarts, 6. have the short body, 7. can not speak, write or read, can not take a bath by him self, 8. he like strike or broke the window if he can not do something. The microcephaly idiot is a heredity desease that inherytance from parents to their offsprings. The microcephaly idiots can release if person have homozygot resessive gen. This gene release can be caused the inbreeding or marriage cousin. So in this case, we can see that inherytance from parental to offsprings.

REFERENCES

Alkuraya, Fawzan S., et al. 2011. Human Mutations in NDE1 Cause EXTREME Microcephaly with Lissencephaly. The American Journal of Human Genetics 88, 112, May 13, 2011.

Feng, Yuanyi & Walsh, C.A. 2004. Mitotic Spindle Regulation by Nde1 Controls Cerebral Cortical Size. Neuron, Vol. 44, 279293, October 14, 2004 by Cell Press. Guyton and Hall, 1996, Buku Ajar Fisiologi Kedokteran, edk 9, trans. dr. Irawati Setiawan, Penerbit Buku Kedokteran EGC, Jakarta.

Quintyne, N.J., et al. 1999. Dynactin Is Required for Microtubule Anchoring at Centrosomes. The Journal of Cell Biology, Volume 147, Number 2, October 18, 1999.

Ratnadita, Adelia. 2011. Head of Children Microcephalus contracted as Brain Evolution. http://www.detikhealth.com/read/2011/08/04/165822/1696763/764/kepala-anakmicrocephalus-mengecil-karena-evolusi-otak?o8833health. Accesed at Thursday, 17 November 2011.

Team of Lecture. 2011. Genetics Practical. Jember: Press of Jember University.