Wednesday 3 December 2014

LIST OF COMMUNICABLE DISEASES




          Genetic disorders can occur either due to change in chromosome number or structure or mutations. Some of these genetic disorders are listed below.

Name of the disorder
Cause
Symptoms
I On the basis change in chromosome structure


1.Cri-du-chat syndrome
Deletion of whole or part of the short arm of chromosome 5
Infant’s cry like the mewing of a cat, moon like face.
II. On the basis change in chromosome number


1.Down’s syndrome (Mongolism)
Trisomy of chromosome 21
Mentally and physically retarded, round face with broad skull
2.Edward’s syndrome
Trisomy of chromosome 18
Mental retardation with several congenital malformations
3.Klinefilter’s Syndrome
Additional X-chromosome (XO)
Phenotypically females with rudimentary sex organs and mammary glands
4.Turner’s syndrome
Lake of X-chromosome 13
Cleft lip, deafness, mental retardation
5.Patau Syndrome
Trisomy of chromosome 13
Cleft lip, deafness, mental retardation
III. Gene mutation


1.Albinism
Recessive gene which blocks conversion of amino acid tyrosine to melanin
Lack of pigment in the skin, hair and iris of the eyes
2.Cystic fibrosis
Recessive autosomal gene in homozygous condition
Increased susceptibility of lung infection, abnormal pancreatic function
3.Fabry’s disease
Recessive X-linked (sex-linked) gene which blocks metabolism of glycophingolipids
Lipids as crystals deposit on the walls of blood vessels of heart, kidneys, eyes, causing shooting pain
4. Hemophilia
Sex-linked recessive gene causing defective synthesis of clotting factor
Haemorrhage
5.Huntington’s disease
Dominant autosomal gene
Develops at the late age of 30-40 years and slowly leads to loss of control on the movement of limbs
6.Muscular dystrophy (Duchenne type)
Sex-linked recessive gene during childhood  recessive gene causing defective synthesis of clotting factor
Haemorrhage
7.Phenylketonuria (PKU)
Recessive autosomal gene in homozygous condition
Brain damage leading to mental retardation
8.Sickle cell anaemia
Recessive autosomal gene in homozygous condition resulting in abnormal haemoglobin
Inability to carry oxygen by blood
9. Tay-sachs disease
Recessive autosomal gene after 8-9 months
Degeneration of cerebral function leading to epilepsy, paralysis or even blindness
10. Thalassemia (Cooley’s anaemia)
Recessive gene in homozygous condition
Severe anaemia
11. Leasch-Nyhan syndrome
Sex-linked (x-linked)recessive trait
Development of involuntary movements, mental retardation
12Marfan’s Syndrome
Autosomal dominant
Abnormalities of the eyes, cardiovascular and skeletal system

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