Abstract

Xinjiang in northwest China was part of the ancient SilkRoad, and previous studies have shown that there was an ex-tensive genetic admixture in human population in the SilkRoad region. Combined with historical records, studies onethno-origin, migratory history, and marriage customs maycontribute to an understanding of the role of different factorsin shaping the genetic structure of different ethnic popula-tions in this interesting region.Phenylketonuria (PKU) is a common, autosomal reces-sive disorder of amino acid metabolism, caused by the de-ficiency of the hepatic enzyme phenylalanine hydroxylase(PAH) that controls L-phenylalanine catabolism. The inci-dence of PKU determined by international newborn massscreening is higher in Caucasian (northern Irish 1/4404, Ger-man 1/6971 and American 1/10059) (Bickel

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