Marrying close relatives offers genetic risks and benefits for offspring
Endogamy is a powerful but controversial cultural tool. It also can play surprising roles in health and disease.
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Endogamy is a powerful but controversial cultural tool. It also can play surprising roles in health and disease.
Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme involved in glycosaminoglycan (s) (GAGs) metabolism. Here we present the results study of ARSB DNA analysis in MPS VI patients in the Russian Federation (RF) and other republics of Former Soviet Union. In a cohort of 68 patients (57 families) with MPS VI, a total of 28 different pathogenic alleles were found. The most prevalent nucleotide changes included c.194C>T (Ser65Phe) and c.454C>T ...
A study of traditional ‘heirloom’ tomato varieties from Europe has revealed little genetic diversity despite their enormous variety in size, shape and colour