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What is Which of the following is an automsomal dominant metabolic disorder - and explain in detail?
Ans. is 'd' i.e., Familial hypercholesterolemia Single gene disorders (Mendelian disorders) typically follow one of the three patterns of inharitance ? Autosomal dominance Autosomal recessive C. X-linked Autosomal dominant disorders o Normally a gene pair has two alleles. o When one allele becomes abnormal due to mutation it is called heterozygous state. o When both the alleles become abnormal due to mutation it is called homozygous state. o Autosomal dominant disorders are manifested in heterozygous state, i.e. only if one allel is abnormal the disease will be manifested. Autosomal dominant disorders Nervous o Huntington disease o Neurofibro? matosis o Myotonic dystrohy o Tuberous sclerosis o Retinoblastoma Urinary o Polycystic kidney o Familial polyposis coli o Gardner's syndrome o Turcot's syndrome o Lynch syndrome o Peutz Jagher's syndrome o Juvenile polyposis Hematological Heriditary sph? erocyto s i s Von-Wil librand dis Skeletal Marfan syndrome EDS (some variant) Osteogenesis imperfecta Achondroplasia Metabolic Familial hypercholesterolemia Acute intermittent porphyri a Note - Ehlers - Danlos syndrome (EDS) has all three mendelian pattern of inheritance.