Download - Mendelian diseases
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MENDELIAN DISEASESMENDELIAN DISEASES
TOBIN K DOMINIC
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INTRODUCTION
Genetic Disorders
Chromosomal abnormalities
Mendelian diseases
Multifactorial diseases
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MENDELIAN DISEASES
Definition: Diseases in which the phenotypes are largely determined by the action, lack of action, of mutations at individual loci.
Rare 1 % of all live born individuals
4 types of inheritance
:Autosomal dominant
:Autosomal recessive
:X linked dominant
:X linked recessive
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Offspring has a 50:50 chance of being affected
Both sexes equally affected
Examples
ABO Blood Group System
Retinoblastoma
Neurofibromatosis
Marfans syndrome
Familial polyposis coli
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Probability 25% (1:4)
Both sexes equally affected
Examples
Hemoglobinopathies: sickle cell anaemia,thalassemia
Inborn errors of metabolism:PKU,Alkaptonuria……
Albinism
Cystic Fibrosis
Hirschsprung disease
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A mutant gene on X chromosome in males will express itself readily as there is no normal allele, but a mutant gene on X chromosome of females will not express itself in the presence of a normal allele
Examples
Hemophilia
Colour blindness
Duchenne muscular dystrophy
G6PD deficiency
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X linked dominant affected father
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Daughters are affected, sons escape
Examples
Vitamin D resistant Rickets
Familial hypophosphatemia
Blood group Xg
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PREVENTION AND CONTROL
General health promotion
Specific protection
Early diagnosis and Rx
Rehabilitation
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General health promotionEugenicsEuthenicsGenetic counselingGenetic preventive measures
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Eugenics
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Euthenics
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Genetic counseling
Prospective
retrospective
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Preventive measures
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SPECIFIC PROTECTION
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EARLY DIAGONOSIS & RX
Detection of carriers
Prenatal diagnosis
Neonatal screening
Recognizing preclinical cases
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REHABILITATION
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