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How many autosomes:?
–22 pair
How many sex chromosomes?
–1 pair
Females:
–46 XX
Males:
–46 XY
Normal human karyotype is
– Diploid.
Sperm/ Eggs are
– Haploid (carry one copy of each
chromosome).
The sex of newborn is determined by
– Sperm
GENETIC ENVIRONMENTAL
Hemophilia
Osteogenesis imperfecta
Phenylketonuria
Galactosaemia
Duchene
muscular
dystrophy
Spina bifida
Ischemic heart disease
Ankylosing spondylitis
Scurvy
Trauma
Tuberculosis
Peptic ulcer
Diabetes mellitus
*HEREDITARY:
Transmitted in the germ line; passed from parents to their
offspring.
*FAMILIAL:
Diseases run in families and represent multifactorial
inheritance. Risk for first degree is 5-10% higher.
*CONGENITAL:
Born with; disease present since birth.
BARR BODY
[ SEX CHROMATIN ]
Nucleus
Barr body
# of Barr bodies = # of X chromosomes - 1
Davidson Body
LYON HYPOTHESIS:
[ 1961, Mary Lyon ]
1. Only one of the X - chromosomes is
genetically active,
2. Other X of either maternal or
paternal origin undergoes
heteropyknosis and is rendered
inactive.
3. Inactivation of either the maternal or
paternal X occurs at random among all
the cells of the blastocyst on or about
the 16th day of embryonic life.
4. Inactivation of the same X
chromosome persists in all the cells
derived from each precursor cell.
LYON HYPOTHESIS:
INCIDENCE:
• 1 in 800 live births [ overall ]
• Maternal age:
•< 20 yrs - 1 in 1550,
•> 45 yrs - 1 in 30
Flat face
Protruding tongue
Occiput tends to be flat
Low bridged nose
Oblique palpabral
fissure
Epicanthic folds
Slanting eyes
Brushfield spots in iris
Epicanthic fold:
Simian crease
40%- Congenital cardiac defects
ASD, VSD, TOF, PDA.
10-20 fold risk to develop Acute leukemia's:
ALL/AML.
CNS:
Mental retardation, IQ -30.
Develop Alzheimer’s disease -
-- at very young age;
Intestine:
Imperforate anus, duodenal stenosis, Hirschsprung’s
disease.
Sterility:
Arrested spermatogenesis.
Life expectancy:
Most common cause of death:
Congenital heart diseases and leukemia.
With normal heart, only 5% of children with
Down syndrome die before age 10.
After age 10, the estimated life expectancy
is 55 years.
Common cause of male hypogonadism
and infertility.
1 in 1000 live male births,
Presence of one or more extra X
chromosome, 47 XXY.
Rarely diagnosed before puberty,
Clinical features:
Eunuchoid body habitus:
– Long legs, tall and thin.
Small, atrophic testes, small penis.
Lack of secondary sexual characteristics,
Deep voice of high pitch.
Gynecomastia, feminine characters.
IQ - low; mental retardation, behavioral
abnormality.
Karyotype of KFS
Turner Syndrome:
Most common sex chromosome
abnormality in females,
Monosomy X; the missing chromosome X
is usually of paternal origin.
Incidence: 1/8000 . Most die in infancy
Karyotype of Turner Syndrome:
Clinical features of TS:
Edema of dorsum of hand & foot,
Bilateral neck webbing,
Congenital heart diseases, (COA)
Short stature, hyper convex finger nails.
Broad chest & widely spaced nipples,
Multiple Pigmented nevi,
Amenorrhea [ Primary ],
Infertility, streak ovaries.
Low posterior hair line.
Wide carrying angle (cubitus valgus).
Cystic hygroma of neck > webbed neck
Lymphedema
Streak ovaries
True Hermaphrodite:
( ovary + testis )
Pseudo Hermaphrodite:
( Disagreement between
phenotypic and
gonadal sex )
Pseudo hermaphrodite
Female pseudo hermaphrodite:
* Ovaries,
* Male external genitalia,
Male pseudo hermaphrodite:
.. Testes,
.. Female external genitalia;
MENDELIAN
DISORDERS:
[ MUTANT GENES WITH
LARGE EFFECT ]
Genetic diseases:
66
67
68
69
70
71
72
73
74
75
76
Class I Loss of receptor synthesis
Class II Transport inside cell is impaired
Class III Failure of receptors to bind LDL
Class IV Fail to internalize after binding
Class V Internalized bodies are trapped in
endosomes
77
MUTATION IN ENZYME PROTEIN
PHENYLKETONURIA
GALACTOSEMIA
LYSOSOMAL STORAGE DISEASES
GLYCOGEN STORAGE DISEASES
78
DISEASE ENZYME DEFICIENCY
Pompe’s Disease Lysosomal Glucosidase
Tay Sachs disease Hexosaminidase A
Gaucher disease Glucocerebrosidase
Niemann Pick disease Sphingomyelinase
Hurler disease L-Iduronidase
Hunter disease L-Iduronosulphate
sulphatase
79
80
81
82
83
84
85
86
Sims genetics

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Sims genetics

  • 1.
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  • 7.
  • 8.
  • 9.
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  • 11.
  • 12.
  • 13.
  • 14.
  • 15.
  • 16. How many autosomes:? –22 pair How many sex chromosomes? –1 pair Females: –46 XX Males: –46 XY
  • 17. Normal human karyotype is – Diploid. Sperm/ Eggs are – Haploid (carry one copy of each chromosome). The sex of newborn is determined by – Sperm
  • 18. GENETIC ENVIRONMENTAL Hemophilia Osteogenesis imperfecta Phenylketonuria Galactosaemia Duchene muscular dystrophy Spina bifida Ischemic heart disease Ankylosing spondylitis Scurvy Trauma Tuberculosis Peptic ulcer Diabetes mellitus
  • 19. *HEREDITARY: Transmitted in the germ line; passed from parents to their offspring. *FAMILIAL: Diseases run in families and represent multifactorial inheritance. Risk for first degree is 5-10% higher. *CONGENITAL: Born with; disease present since birth.
  • 20. BARR BODY [ SEX CHROMATIN ] Nucleus Barr body # of Barr bodies = # of X chromosomes - 1
  • 21.
  • 22.
  • 23.
  • 24.
  • 25.
  • 26.
  • 27.
  • 29.
  • 30.
  • 31. LYON HYPOTHESIS: [ 1961, Mary Lyon ] 1. Only one of the X - chromosomes is genetically active, 2. Other X of either maternal or paternal origin undergoes heteropyknosis and is rendered inactive.
  • 32. 3. Inactivation of either the maternal or paternal X occurs at random among all the cells of the blastocyst on or about the 16th day of embryonic life. 4. Inactivation of the same X chromosome persists in all the cells derived from each precursor cell. LYON HYPOTHESIS:
  • 33.
  • 34. INCIDENCE: • 1 in 800 live births [ overall ] • Maternal age: •< 20 yrs - 1 in 1550, •> 45 yrs - 1 in 30
  • 35.
  • 36.
  • 37.
  • 38.
  • 39. Flat face Protruding tongue Occiput tends to be flat Low bridged nose Oblique palpabral fissure Epicanthic folds Slanting eyes Brushfield spots in iris
  • 42.
  • 43. 40%- Congenital cardiac defects ASD, VSD, TOF, PDA. 10-20 fold risk to develop Acute leukemia's: ALL/AML. CNS: Mental retardation, IQ -30. Develop Alzheimer’s disease - -- at very young age; Intestine: Imperforate anus, duodenal stenosis, Hirschsprung’s disease. Sterility: Arrested spermatogenesis.
  • 44. Life expectancy: Most common cause of death: Congenital heart diseases and leukemia. With normal heart, only 5% of children with Down syndrome die before age 10. After age 10, the estimated life expectancy is 55 years.
  • 45.
  • 46. Common cause of male hypogonadism and infertility. 1 in 1000 live male births, Presence of one or more extra X chromosome, 47 XXY. Rarely diagnosed before puberty,
  • 47. Clinical features: Eunuchoid body habitus: – Long legs, tall and thin. Small, atrophic testes, small penis. Lack of secondary sexual characteristics, Deep voice of high pitch. Gynecomastia, feminine characters. IQ - low; mental retardation, behavioral abnormality.
  • 48.
  • 49.
  • 51.
  • 52. Turner Syndrome: Most common sex chromosome abnormality in females, Monosomy X; the missing chromosome X is usually of paternal origin. Incidence: 1/8000 . Most die in infancy
  • 53. Karyotype of Turner Syndrome:
  • 54. Clinical features of TS: Edema of dorsum of hand & foot, Bilateral neck webbing, Congenital heart diseases, (COA) Short stature, hyper convex finger nails. Broad chest & widely spaced nipples, Multiple Pigmented nevi, Amenorrhea [ Primary ], Infertility, streak ovaries. Low posterior hair line. Wide carrying angle (cubitus valgus).
  • 55.
  • 56.
  • 57. Cystic hygroma of neck > webbed neck
  • 58.
  • 61. True Hermaphrodite: ( ovary + testis ) Pseudo Hermaphrodite: ( Disagreement between phenotypic and gonadal sex )
  • 62.
  • 63.
  • 64. Pseudo hermaphrodite Female pseudo hermaphrodite: * Ovaries, * Male external genitalia, Male pseudo hermaphrodite: .. Testes, .. Female external genitalia;
  • 65. MENDELIAN DISORDERS: [ MUTANT GENES WITH LARGE EFFECT ] Genetic diseases:
  • 66. 66
  • 67. 67
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  • 72. 72
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  • 75. 75
  • 76. 76 Class I Loss of receptor synthesis Class II Transport inside cell is impaired Class III Failure of receptors to bind LDL Class IV Fail to internalize after binding Class V Internalized bodies are trapped in endosomes
  • 77. 77 MUTATION IN ENZYME PROTEIN PHENYLKETONURIA GALACTOSEMIA LYSOSOMAL STORAGE DISEASES GLYCOGEN STORAGE DISEASES
  • 78. 78 DISEASE ENZYME DEFICIENCY Pompe’s Disease Lysosomal Glucosidase Tay Sachs disease Hexosaminidase A Gaucher disease Glucocerebrosidase Niemann Pick disease Sphingomyelinase Hurler disease L-Iduronidase Hunter disease L-Iduronosulphate sulphatase
  • 79. 79
  • 80. 80
  • 81. 81
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  • 86. 86