Properties Heredity and Pedigree "Microcephaly Idiot"

PROPERTIES HEREDITY AND PEDIGREE “MICROCEPHALY IDIOT”

GENETIC PRACTICAL REPORT

By : Group 5

BIOLOGY EDUCATION STUDY PROGRAM

DEPARTEMENT OF MATEMATHIC AND SCIENCE EDUCATION

FACULTY OF TEACHER TRAINING AND EDUCATION

JEMBER UNIVERSITY

2011

Ester Yuliana (100210103008)

M. Syahron M.B.B (100210103032)

Diana Ulva (100210103053)

Niswati Zahro (100210103068)

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 can’t cleavage by self, chromosome like smooth fiber usually called fiber of

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

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 can’t 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

V. Result of Observation

Characteristic Father Mother Children to

1 2 ect

Hair type Curly Straight Stand Stand

Hair colour Black Black Black Black

Bald Yes No No No

Eyebrow Rare Heavy Heavy Heavy

Eye Circle Circle Circle Circle

Nose Flat-nose Flat-nose Flat-nose Flat-nose

Lips Normal Wide Wide Wide

Chin Blunt Oval Oval Oval

Ear Normal Normal Normal Normal

Warna Kulit Olive Black sweet Olive Olive

Hair hand Litle Litle Litle Litle

Hair foot Dense Litle Dense Dense

Fat/Thin Thin Thin Thin Thin

The ratio of Normal Normal Normal Normal

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

Search one of people in society that fell deviation

properties/characteristic

Come to see his family and asked to get the pedigree

data




data



parents




data

Analyze the inheritance of the genetic code by giving the pedigree

made



parents




data

leg loss

Number of

fingers normal normal normal normal

Length of

index finger Normal normal normal normal

Number of

foot normal normal normal normal

Blood group 0 0 0 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

Picture 5. Pedigree of Munawir’s Family

The identity of a man ie.:

Name : Munawir

Sex : Male

Birth : Bondowoso, 15ᵗʰ April 1990

Addres s : Jambe Sari, Bondowoso

Parent’s Identity : Father : Miadi (enterpreneur)

Marriage cousins

The Suffer

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 Miadi’s 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 pedigree’s. 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 : Men

Birth : Bondowoso, 15 april 1990

Age : 21th

Address : Grujugan Lor RT/RW 19/06 , Jambesari, Bondowoso

Name of him parents :

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 it’s 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 couldn’t 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.

Picture 6. Pedigree of Munawir’s 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 >< ♀ Aa

(normal) (normal)

F1: AA = normal

Aa (carrier) = normal = 75%

Aa (carrier) = normal

aa = microcephaly idiot = 25%

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.

A a

A AA Aa

a Aa aa

Marriage cousins

The Suffer

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 Miadi’s father, so Muzani is Miadi’s cousin.

This herdities table about Miadi can explain

P1 : ♀ AA >< ♂aa

(normal) (microcephali idiot)

F1 : Aa (carrier) = normal 100%

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 (Munawir’s mother) i.e

P1: ♀ AA >< ♂Aa

(normal) (carrier)

F1: AA = normal 25%

Aa (carrier) = normal 75%

A A

A AA Aa

a Aa Aa

Father of Muzani is brother of Miadi’s father, so the most probably have genotype

heterozygot (Aa) as carrier. He marriage with Muzani’s mother that have homozygot normal

(AA). Probability of their offsprings is 25% normal (homozygot) and 75% carrier (normal

with heterozygot)

A A

a Aa Aa

a Aa Aa

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, 1–12,

May 13, 2011.

Feng, Yuanyi & Walsh, C.A. 2004. Mitotic Spindle Regulation by Nde1 Controls Cerebral

Cortical Size. Neuron, Vol. 44, 279–293, 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-anak-

microcephalus-mengecil-karena-evolusi-otak?o8833health. Accesed at Thursday, 17ᵗʰ

November 2011.

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

http://www.detikhealth.com/read/2011/08/04/165822/1696763/764/kepala-anak-microcephalus-mengecil-karena-evolusi-otak?o8833health

http://www.detikhealth.com/read/2011/08/04/165822/1696763/764/kepala-anak-microcephalus-mengecil-karena-evolusi-otak?o8833health

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Properties Heredity and Pedigree "Microcephaly Idiot"