Genetika Manusia
Genetika Manusia
Genetika Manusia
SNP
Single Nucleotide Polymorphismus
The abundance of SNPs and the ease with which they can be
measured make these genetic variations significant.
IN DISEASE DIAGNOSIS
• X chromosome
Inactivation is random
and occurs at an early
point of development,
however, about 10% of
the genes on the
inactivated X
chromosome avoid
being silenced.
Dosage Compensation: Barr Body
The number of Barr bodies in a
cell is one less than the number
of X chromosomes. For
example:
• In a normal female with the
genotype 46XX , the number
of Barr bodies would be 1.
• In a normal male with the
genotype 46XY, the number
of Barr bodies would be 0.
Dosage Compensation: Barr Body
Incomplete dominance in human
hypercholesterolemia
GENOTYPES:
HH Hh hh
Homozygous Heterozygous Homozygous
for ability to make for inability to make
LDL receptors LDL receptors
PHENOTYPES:
LDL
LDL
receptor
Cell
aa Aa Aa AA
Autosomal Recessive Pedigree
• Draw a Pedigree showing a cross between
Heterozygous parents that have 2 boys and 2
girls. (Show all possibilities)
Genotypes of Affected and Unaffected:
• AA=Unaffected Aa=Carrier, Unaffected
aa=Affected
Aa Aa
aa Aa Aa AA
Sex-Linked Recessive Pedigree
• Draw a Pedigree showing a cross between a Red
eyed Male fruit fly and a Carrier Female fruit fly
which have 2 males and 2 females. (Show all
possibilities) Red is dominant to white.
• Genotypes of Parents:
• Male = XR Y Female = XR Xr
XRY XRXr
• Chronic Simple Glaucoma – Drainage system for fluid in the eye does not work and
pressure builds up, leading to damage of the optic nerve which can result in
blindness.
• Huntington’s Disease – Nervous system degeneration resulting in certain and early
death. Onset in middle age.
• Neurofibromatosis – Benign tumors in skin or deeper
• Familial Hypercholesterolemia – High blood cholesterol and propensity for heart
disease
• Progeria – Drastic premature aging, rare, die by age 13. Symptoms include limited
growth, alopecia, small face and jaw, wrinkled skin, atherosclerosis, and
cardiovascular problems but mental development not affected.
Examples of Autosomal Recessive Disorders
• Congenital Deafness
• Diabetes Mellitus
• Sickle Cell anemia
• Albinism
• Phenylketoneuria (PKU) – Inability to break down
the amino acid phenylalanine. Requires
elimination of this amino acid from the diet or
results in serious mental retardation.
1. Deletion
2. Insertion
3. Inversion
4. Translocation
5. Duplication
Problems with Chromosome Number:
ANEUPLOIDY
Abnormal number of some chromosome
In Somatic Cells:
• Trisomy 2n+1
• Monosomy 2n-1
• Tetrasomy 2n+2
In Gametes:
• Nullisomy n-1
• Disomy n+1
MONOSOMY AND TRISOMY CAUSED BY
NONDISJUNCTION
Problems with Chromosome Number:
diploid = 2X N=X
triploid = 3X
tetraploid = 4X N = 2X
pentaploid = 5X
hexaploid = 6X N = 3X
duodecaploid = 12X N = 6X
POLYPLOIDY
• Polyploidy is common in the plant kingdom.
• In the animal kingdom, natural occurrence of
polyploids is extremely rare.
• In general, polyploids are more nearly normal
in appearance than having monosomy or
trisomy, which is more disruptive to have one
extra chromosome in a pair.
DEVELOPMENT OF
TRIPLOID AND TETRAPLOID ZYGOTE
Human aneuploidy
Down
Syndrome
The chance of having a Down syndrome
child goes up with maternal age
Kleinfelter’s Syndrome
Karyotype XXY
Fetal testing : Amniocentesis
• Karyotyping and biochemical tests of fetal cells
can help people make reproductive decisions
– Fetal cells can be obtained through amniocentesis
Amniotic
Centrifugation
Amniotic fluid
fluid withdrawn
Fluid
Fetus Fetal
(14-20 cells
Biochemical
weeks) tests
Placenta
Several
weeks later
Uterus Cervix Karyotyping
Figure 9.10A Cell culture
Fetal Testing: Chorionic villus sampling is
another procedure that obtains fetal cells
for karyotyping
Some
Chorionic villi
biochemical
tests
Figure 9.10B
The End…