Question

In detail explain what the function of each gene is and (N370s, L444P, 84gg, and IVS2) for Gaucher Disease  

Thank You

Answer 1

Gaucher disease is a lysosomal storage disorder due to the autosomal recessive trait. It is common among Ashkenazi jews. the main cause of this disease is due to glucocerebrosidase gene mutations. N370s, L444P, 84gg, and IVS2 are the old nomenclatures. when N370s gene defects occur it causes this disease among Ashkenazim Jews(Spanish and Portuguese populations). L444P(6433c) is another glucocerebrosidase mutation it occurs in Gaucher disease. L444P allele correlates with neuronopathic forms genotype. there were L444P genetic modifier monozygotic implications in Gaucher's disease. whereas 84gg insertion occurs in the Ashkenazim population. N370s and 88gg gene mutations occur in Gaucher's disease with the same coalescence times.IVS2 gene mutations are the first ones in Gaucher's disease alleles in Ashkenazi Jewish populations. this is due to pseudogene mutations type indicate the role of acid beta-glucosidase pseudogene and gene structural arrangements in this disease.