Question

Name two genetic diseases that appear to be primarily due to de novo germline mutations and provide a mechanism underlying their bias for de novo mutations. Please provide sources

Answer 1

Answer=

Genetic diseases that appear to be primarily due to de novo germline mutations are as follows:

1]Mucolipidosis II or inclusion cell disease or I-cell disease

2]Mucolipidosis III or pseudo-Hurler polydystrophy

Mechanism underlying their bias for de novo mutations

Mucolipidosis II or inclusion cell disease or I-cell diseaseand Mucolipidosis III or pseudo-Hurler polydystrophy are autosomal recessive disorders caused by defects in the GlcNAc-1-phosphotransferase complex,which is composed by three subunits:.mutations in gene encoding the alpha and beta subunits lead to ML-II alpha/beta,or to the less clinically severe condition.

ML-III gamma is caused by mutations in the gene encoding the gamma -subunit of GlcNAc-1-phosphotransferase