Genetics and Inheritance waratchayg siriphrqtum

M .
611 NO .
2
chromosome is made UP Of DNA
tightly coiled many times around proteins called histones
that support its structure .

chromosome in human : total chromosome in cell 2h :

46

In 46 Chromosome there are , 22 pairs of autosomes and

1 Pair of sex chromosomes [ the ✗ and Y )

Autosome • is chromosome that isn't a sex chromosome

• 22 pairs
• Autosomes control the inheritance all of
organism 's characteristics except the sex-linked ones
,
which are controlled by the sex chromosomes .

sex .
type of
chromosome that participates in sex

chromosome determination in organisms

In human and most other mammals

✗ Y system
 zw system Females have 2 different kinds of chromosomes CZWI ,
and males have 2 Of the same kind of chromosomes 122 )

female male

✗0 system

Grasshoppers crickets cockroaches

the daugther chromosome was determined by sperm that

has ✗ chromosome or not

bees
In insects belonging to Family Hymenoptera such as ants and

Haploid -

diploid system
 Koryo typing
is the of
pairing
process and ordering all
the chromosomes of an organism .

prepared using standardized staining procedures

that reveal characteristic structure features for
each chromosome

used to
detect a variety of genetic disorders
or genetic mutation .

Karyotypes are prepared from mitotic cells that have been arrested
in the metaphase pro metaphase portion of the cell cycle
or
,
when
chromosomes assume their most condensed conformations .

source of the cells do the Koryo typing

white blood cells from a blood

sample which are actively dividing ,
skin cells ,
cells from biopsies ,
tumor cells

sampling cells before birth

: Amniocentesis
: chorionic villus
sampling ccvs )

preparation of a Koryo typing from blood sampling

Hypotonic solution used

for the rupture of cells
,
the swelling
causing
out of
thereby bursting
the cells releasing the
chromosomes .
 colchicine is used
to arrest cell division
at metaphase

reveal abnormalities that can cause disorders

Female with : Turner 's syndrome

missing chromosome

female with : Klinefelter 's syndrome

extra chromosome

Genetic disorders

Germ line cell is the sex cell ceggs and sperm ) that are used
by sexually reproducing organisms to pass on genes
from
generation to generation

Genetic disorders
or
genetic mutations and diseases

mutations : changes in the

material
genetic
and can pass from parents
the
to offspring

-
Chromosome
type of ① chromosome mutation structure
genetic mutation
② Base or point mutation chromosome
number
mutation in chromosome structure

① Deletion ③ Inversion
② Duplication ④ Reciprocal
translocation
 ① Deletion

( Autosome )

The deletion of part of chromosome 7 cause Williams syndrome

Williams syndrome ( WS ) often an unusual
"
efin "
face

the deletion of genetic material on the small arm of chromosomes

and cause Cri du chat syndrome
Cri du chat syndrome referring to the characteristic cat -
like cry -

due to the syndrome produce a high pitched -

cry that sounds like a cat due to the larynx

develops abnormal .

• patient with cri -

du -
chat
closed glottis syndrome

do
Cri chat syndrome include mental retardation delayed
,
development , small head size , widely spaced eyes -

② Duplication ( Autosome )

A single defective gene on chromosome 4 by the

insertion of amino acid glutamic es [ Gln ) and caused
Huntington disease .

Huntington disease is a progressive brain disorber that

cause uncontrolled movements
,
emotional
loss of
problems , and thinking ability .
③ Translocation [ Autosome )

Translocation of
A chromosome 15 and 17,9 and 22 caused
anted and chronic myeloid leukemia .

Leukemia is a cancer of the blood especially affects the

leukocytes or white blood cells .

④ Inversion ( Autosome )

chromosome inversion also known as inversion g

,
is related
,
to Walker -

Warburg syndrome .

Walker -

Warburg syndrome is inherited disorder that

an
affects development of the muscles
,
brain ,
and eyes .

It's the most severe of a group of

genetic conditions known as congenital
muscular dys trophies which cause muscle ,

weakness and wasting c atrophy ) beginning

very early in life

⑨ Inversion csex chromosome )

An inversion of an X -
linked gene encoding blood
coagulation factor and caused Hemophilia A.

Euploidy mutation chromosome number

a in •
Aneuploidy

{
" """ "
" "°
° ""
"°
" "
" "

plants and both animals "

11×1 2 3 4 rarely in and plants 11×1 2 3 4
Diploid : 2h12 sets ) animals Diploid : 2h12 sets )
* ±
speciation imbalance
fifth 811000
•
•

oooo number of
Triploid : 3h13 sets ) gene product 00 8888100
Trisomy 2 ( Mtl )

oooo 88818181 wig

tetraploid : encesets ) go off off if
MONOSOMYI ( 2h -

1)

The most common of mutation in

chromosome number is
aneuploidy ( A gain or loss of chromosomes from the normal 46 )
 is the of one or more extra chromosomes
Aneuploidy presence
or the absence of one more chromosome

the most common cause disease in human

is trisomy .

Nondisjunction is the failure of the

chromosomes to separate equally can occur in
,
meiosis I and meiosis II

Egg sperm

1
I I

It
nondisjunction a- fertilization

" mitosis

,n
"

of autosomes
① 47 47

Trisomy

① Trisomy 13 or D-trisomy [ Patou syndrome )

② Trisomy 18 or E- trisomy ( Edward syndrome )
③ Trisomy 21 or G- trisomy [ Down syndrome )
I

① Patou 's syndrome *

extra chromosome 13.* (12,000-20,000)
2h = 47 XX Or 47 ,XY
,
45 1- XX 45 1- ✗ ✗
,

Egg -
- 22 TX ; 23 + ✗ cleft lip and / or
sperm : 22 :X
; 231-4 palate
231-11 221 Y
;
-

cleaned hands and

polydactyly or
extra fingers
 18*1
*
② Edward 's syndrome extra chromosome
)
I

g. go ,
2h -_
47
45 1- ✗✗
,
45 TXY Deformed feet ,

Egg : 221-11
; 23 1- ✗ known as

sperm : 221-11 ; 231-4 rocking -

bottom
2) TX ; 22+4 feet

21*1
③ syndrome mongoloid ism extra chromosome
)
Down or I

1200

2h -47-
•
Decreased muscle tone at
451 XX
-

45 + XY birth
,
Excess skin at the nape of
Egg :22tX;23tX •

sperm : 22+11 ; 231-4 the neck

231-11 ; 221 Y -

Upward
•
slanting eyes
• wide short hands with
,
short fingers
•

single crease in the palm of

the hand .

chromosomal mutation in sex chromosome

A little less common and less severe effects than autosomal

mutation .

It caused by nondisjunction of sex chromosome

gamete •
④ ✗ ④ • ✗✗ Y ( Klinefelter ,
syndrome
or
"
nondisjunction ④ ✗
④ •
XXX ( meta female )

④
• ⑧ ✗ ④ • YO cnot viable )
↳
⑧ or
gamete
⑧ ✗
④ P XO ( Turner syndrome )

meiosis and possibilities genotype

gamete formation at fertilization c phenotype )

Female : Turner syndrome ④

•
A condition that affects only females results when i of
,

the x chromosome csex chromosome ) is

Occurs live female births
missing
•

ygoo , ooo
!
 chromosome Eggcx ) + sperm co )
2h -45
-

= 22 t XO 70%
99th
45 1- ✗ 0 Egg colt sperm CX )
= 22 t ✗ 0 25^1 .

o Have extra folds of skin

on the neck ( webbed neck )

☐
shield shaped thorax

Female : Triple ✗ -

syndrome XXX

It 's known as trisomy ✗ due to females has 3 ✗ chromosomes .

affects about 1 females

1000
The height is more than the
average female height with
long legs
chromosome
2h = 47
44 1- XXX
47 ,
XXX

-
① +
④ = XY Normal male

-
④ +
④ :
XXY Klinefelter 's male

-
④ +
④ = XYY XYY male

male : Klinefelter syndrome ✗✗ Y

•
sex chromosome disorder in boys and men that presence
of an extra ✗ Chromosome
• occurs approximately 1 males
500-1000
 Mate : Jacob syndrome ✗ YY

> rare chromosomal disorder that affects males

>
presence of an extra Y Chromosome
s occurs in 7 "°"
yooo o
involuntary muscles
movements
chromosome ☐ taller -
than -

average
2h : 47 height
94 + ✗ YY o larger head dimensions
47 XYY ☐ low testosterone
,

o
infertility

-
Chromosome
type of ① chromosome mutation structure
genetic mutation
② Base or point mutation chromosome
number
Base or point mutation

It's a change in one or few nucleotides

( substitutions
,
insertions or addition
,
deletions )
type of point mutation

|
the purines the pyrimidines
•
Adenine •
cytosine Uracil
•

• Guanine •
Thymine

④ Transition mutation CAT to GC in this example ]

Refers to a point mutation the changes purine → purine or

pyrimidine →
pyrimidine base .

④ Trans version mutation ( co to GC )

purine base →
pyrimidine base pyrimidine base →
purine base
,

① missense mutation ( change from one amino acid to another ]

Refers to a point mutation that base change the amino acid

④ Nonsense mutation ( amino acid to stop codon )

② Neutral mutation c
change amino acid → amino acid with
similar chemical properties )

④ Silent mutation ( change in codon such that the same

amino acid is specified )

Refers to a point mutation that base no change in the protein

Frameshift mutation addition deletion )

④ ( or

Refers to a point mutation that base inserted into or deleted

shift in the of MRNA codons
which reading
" "
cause .

Modes of inheritance for single -

gene diseases

Autosomal dominant inheritance

•
An individual can develop the disease with either one or 2

copies of the mutant allele CDG and DD )

• Therefore ,
carrier have an abnormal phenotype
•
A who
personhas a single abnormal gene has 50-1 .
chance of
inheriting the mutant gene
④
Huntington disease

Autosomal recessive inheritance

o The trait is often not found in parents but may appear in

offspring
•
The individual develops the disease only if they inherit two
copies of the mutant allele caa ) therefore they must inherit a
,
from each parent
copy .

If the has of mutant allele then

parents one
copy CAA )
•

,
,

they will be a carrier

,
but will be
phenotypically normal .

• A carrier has 9 50% Chance of passing on the mutant

allele to each child .

④ sickell cell anemia

☐ It's a genetic disorder of the blood caused by an inherited

abnormal hemoglobin ( the Oz -

carrying protein within the RBC )

on chromosome 11
Csickled
.

☐ the abnormal hemoglobin causes di stored appearing

under a microscope ) RBC
 ④ Albinism : It causes the skin , hair , eyes to have little
or no color

✗ -
LINKED recessive it's the interitance associated
with on ✗ or Y
genes
chromosome .

. It refers to genetic conditions associated with mutations in genes

on the ✗ chromosome .

•
A male carrying such a mutation will be affected because
,
he carries only one ✗ chromosome .

④ Red -
green color blindness

men green color blindness than women because

suffer from red -

the genes for the red and green color receptors are located on the
✗ Chromosome Of which males have only one and females have two
,

Hemophilia

mostly inherited genetic disorder that blood doesn't clot

lacks sufficient blood
normally because it -

clotting proteins .

( clotting factors )

Hemophilia Alleles h
Normal CH ) →
✗
H
Affected Ch ) ) ✗

Hemophilia Genotype / Phenotypes

✗
"
x
"
✗
"
✗
n
✗ hxn
✗ HY ✗ hy
 occurs when an abnormal gene
✗ -
LINKED Dominant from one parent causes disease

Rett syndrome : -
It's due to mutation of the mecpz gene
a genetic
which occurs on the X chromosome .

inherited and
-
passed on by female which has
one mutated ✗ chromosome .

•
it's a rare genetic neurological disorder
⑧affects all body movement , cause speech problem ,
difficulty
walk and loss of purposeful hand use .

Y -
LINKED Genes

They passed directly from father to son because only son have
a Y Chromosome .

All of the sons of an affected father are affected

Y -

linked disorders only cause infertility .

Disease from Y -
linked genes

Hypertrichosis of the ears webbed toes ,

,
any porcupine man

Hypertrichosis of the ears ( hairy ears )

is a condition wherein there is a conspicuous growth of hair on

the outside rim the ear .

sex influenced trait controlled by genes present on autosomes

,
hence
such genespresent in both sexes but their
are
expression varies in different sexes .

• For male he has 1 recessive allele , he will show that trait but
, ,
in female ,
it take a recessive to show the same trait .
Father is heterozygous ( BD )
mother is heterozygous CBD )

Aml