Single Gene Disorders

Single Gene Disorder or Mendelian disorder are those when a distinct phenotype is attributed to a single gene. There are many such Human Genetic Disorders which have been reported and the number is growing exponentially. These disorders follow very deducable inheritence pattern like autosomal dominant, atuosomal recessive and sex linked, which can be traced by pedigree analysis. In some disorders like haemophilia, phenylketonueria, huntington, muscular distrophy, thallessemia, etc. with high frequency of occurrence in population mutation are also enlisted. In such cases basic PCR based or RT-PCR based analysis provides a valuable information. Yet in some cases complete exon or gene sequencing is needed to be undertaken, to undermine the responsible mutation.

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Disorder prevalence (approximate) 
Autosomal dominant
Familial hypercholesterolemia1 in 500
Polycystic kidney disease1 in 1250
Neurofibromatosis type I1 in 2,500
Hereditary spherocytosis1 in 5,000
Marfan syndrome1 in 4,000[2]
Huntington's disease1 in 15,000[3]
Autosomal recessive
Sickle cell anaemia1 in 625
Cystic fibrosis1 in 2,000
Tay-Sachs disease1 in 3,000
Phenylketonuria1 in 12,000
Mucopolysaccharidoses1 in 25,000
Lysosomal acid lipase deficiency1 in 40,000
Glycogen storage diseases1 in 50,000
Galactosemia1 in 57,000
X-linked
Duchenne muscular dystrophy1 in 7,000
Hemophilia1 in 10,000

 

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