ɿ
Heredity ʡ "" Genes "" Chromosomes. ǡ ǡ .
: " " " " ޡ "" Mendel ǡ ɡ : " " ɡ ֡ ! ! ! ! . ʡ traits gametes ( ) ǡ !!! ݡ meiosis 46 23 : sperm ovum. Chromosome : Nucleic Acid : "--" DNA ɡ : genes ɡ ϡ !!!
ɡ GENETICS :

"--" DNA ɿ

Nucleic Acids () ̡ :
* "- " Deoxyribose .
* Phosphate .
* ϡ bases :
Purines : ( Adenine = A Guanine = G ) Pyrimidines : ( Thymine = T Cytosine = C ).
"--" Double Spiral Helices " - " Hydrogen Bonds..

"-_" DNA :

* () .
* () genes codes ( ) ǡ defective code in a gene ɡ .
* Repairing Enzymes Ultra Violet (UV) Ionizing Radiation X-ray Nuclear Radiation. "--" DNA : ( ) Xeroderma Pigmentosum ǡ "--" ӡ .

Nucleic Acids ڿ

:
* DNA "--" .
* "--" messenger RNA (m-RNA) "--" : : "" Ribose " - " Deoxyribose Code Transcription "--" Cell Nucleus Cytoplasm ɡ . Single Helix "- " bases Nucleotide Nucleotide Triplets "- - " " " One of Amino Acids ( ) polypeptide () sequence of amino acids.
* " " Ribosomal RNA (r-RNA) .
* " " transfer RNA (t-RNA) ( (Ribosomes ( ) ɡ "-_" m-RNA. t-RNA m-RNA.

ҡ \ "" " genes RNAs .

Somatic Cell Division (Mitosis) () Sexual Cell Diviosion (Meiosis)

() Mitosis:
23 46 . :
* ɡ ˡ ߡ ǡ . ( ) ɡ . ɡ ȡ .
* : ѡ () Hair Follicles ǡ 3-5 ء ! !!! .
( ) .

() () Meiosis:
( Testis Ovary) gametes ( sperm ovum ) () ǡ Gonads Haploid Number 23 . ݡ : () Y-sperms () X-sperms ! ϡ ɡ . ǡ ! ݡ ɡ 46 !. Fertilization ǡ ( zygote) 92 ! (46+46=92 ) ɿ :ǡ 46 ء 22 . ϡ ɡ meiosis ȡ

Genetics
() . " " Gregor Mendel 1856 .


Genetic Engineering " - -" DNA .

()
() chromosome ɡ () .

Somatic cell
species : 46 ǡ 23 ǡ 48 ǡ () 8 . : " " Diploid Chromosome Pairs of chromosomes ǡ : () Homologous Chromosome. () 23 () Haploid Chromosome. ա Y-sex chromosome X-sex chromosome ߡ ǡ ɡ : ( ) Heterogenous Chromosome.

() Germ cells or gametes
() ɡ : 23 . . . : " " Haploid Chromosome. sperm 22
() autosomal chromosomes sex chromosome : () Y-sex chromosome () X-sex chromosome : ( ) .
ɡ ɡ
!!!!! () ovum () X-sex chromosome 22 ().

ʡ
ʡ ڡ :
* Deletion .
* Translocation .
* Inversion .
* Isichromosome gene locus .
* ) ɡ .

Karyotyping or Chromosomal Analysis
ʡ . blood specimen . ɡ :
: 22 44 () Autosomal Chromosomes + Sex Chromosomes. ǡ ɡ : (44 + ա ) + XY, normal shapes44. ɡ : (44 + ӡ ) normal shapes,44 + XX . ( Chromosomal Disorders)
:
Autosomes Sex Chromosomes Chromosomal Karyotyping
"" Turner's Syndrome 22 = 44 X 45,X0, normal shapes
"" A female with Down Syndrome 47 XX 47,XX,21+
21 3
"" A male with Down Syndrome 47 XY 47,XY,21+
21 3
"Cri du Chat" Syndrome 46 XX 46,XX,5p-

"Cri du Chat" Syndrome 46 XY 46,XY,5p-

"" Klinefelter Syndrome 47 XXY 47.XXY


Mosaicism
nondisjunction of paired chromosomes ѡ zygote . ɡ ǡ ǡ 48 44 !!! Mosaicism or Mixoploids.

()
gene : ɡ ( ) ovum () sperm () zygote .

()
"--" DNA Nucleotides ( ) chromosome. ɡ ʡ 2 alleles : . : " " "" alleles of genes ϡ gene locus. .

Homozygous Trait
() Gene Locus.

Heterozygous Trait
() .

""
"" homozygous gene . .

""
"" heterogenous gene ѡ .

() Isoalleles
.


:
* "--" ϡ ɡ .
* gene codes : Nucleotide Triplets "--" One of Amino Acids . sequence of amino acids . ɡ "--" (m-RNA) messenger RNA ɡ ǡ ʡ structural proteins functional proteins . .

Human Genome
() genome Total Sum of Genes ѡ Human Genitists Human Genome . . 100,000 ǡ 3 "--" DNA bases . gene locus . ɡ ǡ Cystic Fibrosis Neurofibromatosis "" Down's Syndrome ɡ Breast Cancer .

ǿ
ѡ :
* : Monogenic Trait : Sickle Cell Anemia : Monogenic Hereditary Disease. Polygenic Trait or Disease. Multifactorial Trait or Disease.
* Genotype: .
* Phenotype: .
* ( ) Dominant Gene or Trait: . ( ).
( ) :Recessive Gene or Trait ɡ .
* () :Autosomal Recessive Trait () .
* () Autosomal Dominant Trait: () .
* () X-Linked Recessive Trait: :
1) ɡ ().
2) () . ɡ .
() X-Linked Dominant Trait:
() Y-Linked Trait: .
:Polygenic Trait or Diseases .
Penetrance of the gene: comlete penetrance reduced penetrance incomplete partial penetrance.
Codominant Traits: Two Dominant Genes " " AB Blood Group "" A "" B " " AB

Symbols used in Family Pedigree

Clinical Genetists :
ٱ ♂ male O ♀ female.
: ٱ-----O mating .
: ٱ===O consanguineous marriage.

: ┬┬┬┬ ( ) ( ) sibs ٱٱ OO
1234
: ٱ^O : Dizygotic Twins.
: O^O ٱ^ٱ : Monozygotic Twins.
: ● ■ ٱ O
: Heterozygous.
: Heterozygous.
: Homozygous.
: ◊ : .
: A female carrier with X-linked recessive trait.
: .
: .
: I (). II III !!!.
: ● ■ Propositus.
↑ ↑
ɡ Monogenic Traits ɡ

Family Pedigree Patterns:
allele of a gene ǡ % $ % . () : N Normal () : : Sickle Cell Anemia : S .


() Nrmal or Healthy: .
Affected : .
Carrier: ɡ ɡ ɡ ֡ ! !


: ()
Autosomal Dominanat Traits or Diseases Monogenic


: () Autosomal Dominant Disease heterozygous : . Patterns Family Pedigree Monogenic Heterozygous Dominant Autosomal Trait :

()

%
$

() %

%%
% $

%

%%
$%




: = 50% = 50% = 0%



/


Genetic Family Pedigree :
Dominant trait with reduced penetrance
ϡ 50N Dominant trait with reduced penetrance .
ϡ ء .
ɡ .

: heterozygous Patterns Family Pedigree Monogenic Heterozygous Dominant Autosomal Trait :


()

%
$

() %

%%
%$

$

$%
$$




: = 25% = 75% = 0%



/

Genetic Family Pedigree :
Dominant trait with reduced penetrance
ϡ 75N Dominant trait with reduced penetrance .
ϡ ء .
ɡ .
Homozygous Alleles 25N . ȡ : " ." !!!

: Homoozygous Alleles Patterns Family Pedigree Monogenic Homozygous Dominant Autosomal Trait :

()

$
$

() $
$$
$$

$
$$
$$






: =
0% = 100% = 0%



/

Genetic Family Pedigree :
ϡ 100N ɡ : " ." !!!

Autosomal Dominant Diseases (AD):
800 ǡ :
Congenital Acanthosis Nigricans Erythrokeratodermia Variabilis ( ) Ichthyoses Retinoblastoma "" Gilbert's Disease ( ) Renal Glycosuira Pituitary Diabetes Insipidus ( " Hyperuricemia Familial Hypercgolestrolemia "" Marfan's Syndrome Adult Polycystic Kidney Disease Acute Intermittent Porphyria Congenital Hemochromatosis "" Noonan's Syndrome .

: ()
Autosomal Recessive Traits or Diseases Monogenic


: Autosomal Recessive Disease " " Sicke Cell Anemia Patterns Family Pedigree Monogenic Homozygous Recessive Autosomal Trait :

()

$
$

() %
% $
%$

%
% $
% $


: = 0 % = 0% = 100%



/

Genetic Pedigree :
֡ 100N ֡ . ɡ ա ϡ . ֡ .
.
ɡ ڡ .

: Autosomal Recessive Disease ֡ : " " Sicke Cell Anemia Patterns Family Pedigree Monogenic Homozygous Recessive Autosomal Trait :
()

%
$

() %

%%
%$

$

$%
$$


: = 25% = 25% = 50%



/

Genetic Pedigree :
֡ 25N 50N 25N 75N .
ɡ .

: Autosomal Recessive Disease ֡ : " " Sicke Cell Anemia Family Pedigree %% ϡ :

()

$
$

() %
%$
%$

$
$$
$$


: =
0 % = 50% = 50%



/

Genetic Pedigree :
֡ 50N 50N 0N .
֡ ȡ .

: Autosomal Recessive Disease ֡ : " " Sicke Cell Anemia Patterns Family Pedigree Monogenic Homozygous Autosomal Recessive Trait :

()

$
$

() $
$$
$$

$
$$
$$


: =
0 % = 100% = 0%



/

Genetic Pedigree :
֡ 100N. .
: ǡ 0N ɡ ǡ 100N . : : " !!!" ɡ ɡ . . ʡ ɡ ̿ ɡ ֡ : " "

Autosomal Recessive Diseases (AR):
600 ǡǡ :
( ) β-Thalassemia Major Acrodermatitis Enteropathica Autosomal Recessive Epidermolysis Bullosa "" Hartnup's Disease " " Letterer- Siwe Disease Diabetes Mellitus Albinism "" Wilson's Disease Cystic Fibrosis Familial Mediterrenian Fever " " Phenylaketoneuria .

: ()
X-Linked Recessive Traits or Diseases Monogenic

:
ڡ ˡ () ء ɡ : () Y () X : (44,XY) . ϡ homologous chromosome ֡ ȡ .
ֿ
homozygous
֡
.
ǡ ϡ ֡ ѡ () ء ߡ !!
ڡ ֡ ѡ .

֡ :

: X-Linked Recessive Disease : " 6- " G6PD () Hemophilia "" Fabrys"s Disease . Family Pedigree ϡ :

()

X
$ Y
%
() X
% X X
%$ Y X
%%
X
% X X
% $ Y X
%%

: =
0% =
50% 100% =
0% =
50% 100% =
0%

100:0

/

Genetic Pedigree :
100N
ǡ ϡ ֡ ȡ .

: X-Linked Recessive Disease : " 6- " G6PD () Hemophilia "" Fabrys"s Disease . Family Pedigree ϡ :
()

X
$ Y
N
() X
% X X
% $ Y X
%%
X
$ X X
$ $ Y X
$%

: =
0% =
25% =
25% =
25% =
25%



/

Genetic Pedigree :
25N 25N ǡ 25N 25N ǡ .
25N .

: X-Linked Recessive Disease : () Hemophilia "" Fabrys"s Disease ǡ Family Pedigree ϡ :
()

X
$ Y
%
() X
$ X X
$$ Y X
$%
X
$ X X
$$ Y X
$%

: =
0% =
25% =
50% 100% =
0% =
50% 100%



/

Genetic Pedigree :
100N ! ϡ ǿ ɡ : " " .

X-linked Recessive Diseases (AR):
ǡǡ :
" 6- " G6PD "" Fabry's Disease Ocular albinism Chronic Granulomatous Disese "" ( A) Hemophilia . Hypophosphatemic Rickets .

: ()
X-Linked Dominant Traits or Diseases Monogenic

:
ϡ ѡ () ء () .
֡ .

: X-Linked Dominant Disease Heterozygous : Follicular Keratosos Spinulosa cum ophiasis . Family Pedigree ϡ :

()

X
$ Y
%
() X
% X X
%$ Y X
%%
X
% X X
% $ Y X
%%

: =
0% =
0% = 50%
100% =
100% =
0%

100:0

/

Genetic Pedigree :
֡ ֡ .
ء ֡ .


: X-Linked Dominant Disease : Follicular Keratosos Spinulosa cum ophiasis . Family Pedigree ϡ :
()

X
% Y
%
() X
% X X
%% Y X
%%
X
$ X X
$% Y X
$%

: =
25% =
0% =
25% =
25% =
25%



/

Genetic Pedigree :
50N ֡ 25N 25N 50N.
. ȡ ء .


: X-Linked Dominant Disease : Follicular Keratosos Spinulosa cum ophiasis . Family Pedigree ϡ :
()

X
$ Y
%
() X
% X X
% $ Y X
%%
X
$ X X
$$ Y X
$%


: =
0% =
0% =
50% =
25% =
25% 50%

= 50:25

/

Genetic Pedigree :
100N . 50N . .

X-linked Dominant Diseases (AR):
ǡǡ :
Follicular Keratosos Spinulosa cum ophiasis Focal Dermal Hypoplasia .

: ()
Y-Linked Dominant Traits or Diseases Monogenic

:
ϡ ء ߿
ڡ ɡ .
ɡ () "" "Hairy Ears".
:
()

X
% Y
$
() X
% X X
%% Y X
%$
X
% X X
%% Y X
%$

: =
100% =
0% =
0% =
0% =
100%

= 0:100

/

Family Pedigree :
ɡ .
.

ǿ
Monogenic ϡ :
Penetrance Reduced Penetrance.
Expressivity .
Genetic Heterogenicity.
.
Sex Limitation.
Interaction of two or more genes.
Environmental Factors.
( ) Pleiotropism . .
Isoalleles .

Polygenic Traits or Diseases
ϡ . : . .

New Mutation
: " !!!".
ɡ . ǡ ɡ ǡ :
ǡ ( ) Mutagens ( ) gametes : ɡ ɡ ϡ !

() Mutagens
() ǡ :
Chemical Mutagens ݡ ʡ ().
Ionizing Radiatin : : ǡ ǡ " " DNA
ɡ ( ) " - " .
.

ɡ :
Chromosomal Mutation .
Point Mutation : " ".


Genetic Heterogeneity
Phenotype ɡ () " " , ɡ .


Prevention of Hereditary Disorders
ɡ () zygote .
ǡ ɡ : " " . ǡ :
1) ѡ .
2) ɡ ǡ ǡ ޡ ϡ ɡ .
3) ɡ . .
4) ̡ . ̡ .


ɡ : ( ) Prenatal Diagnosis Amniocntesis Fetoscopy Amniotic Fluid . . Biochemical Tests. Fetoscope.


ɡ ʡ . ɡ ɡ , ȡ !!
ʡ ɡ :
ǡ Controlling External Environmental Factors ֡ ʡ :
- Epidermolysis Bullosa " " EhlorsDanlos Syndrome.
- Anhidrotic Ectodermal Dysplasia Epidermolysis Bullosa .
- "" Menkes Syndrome.
- Sicle Cell Anemia
- Xeroderma Pigmentosum Albinism

: ɡ :
- :
- " " Phenylketoneurea
- " " Phenyalanine " " Isoleucine "" Naple Syrup Disease Galactose "" Galactosemi
- Nicotinic Acid "" Hartnup Disease -6 Vitamine B6 " " Homocystinuria () : Acrodermatitis Enteropathica "" arginine " " argininosuccinicaciduria .

:
ǡ ǡ ɡ . ɡ :
- "" Barbiturates Acute Intermittent Porphyria .
- " " Angioedema "1 " C1-esterase inhibitor "" Kallikrein Inhibitors () "" Antifibrinolytic Agents.
- Primary or Congenital Hypothyroidism "" Thyroxine
- ( ) Mental Retardation Cretinism Primary Congenital Growth Hormone Deficiency ա

:
ǡ : Coagulation Defects "" Haemophilia 8 ( ) Primary Congenital Immunodeficiency Immunoglobulins .
ǡ : enzymes ǡ . .

:
Transplant or Implants ɡ ɡ Bone Marrow Transplant A Normal Donor : "" Thalassemia () Hemoglobin ǡ . .

Gene Therapy

Defective Genes Normal Genes Techniques of Genetic Engineering . ɡ :
- In Vivo Gene Therapy : .
- Ex Vivo Gene Therapy : !!!
ǡ ɡ ɡ
ǡ ȡ ǡ . : Human Insulin Human Growth Hormone Biological Industrilization.

ء ɡ ɡ ǿ
ѡ ǡ :" ." .