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Characterization of a common deletion polymorphism of the UGT2B17 gene linked to UGT2B15.

机译:与UGT2B15连锁的UGT2B17基因的常见缺失多态性的表征。

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摘要

Members of the human UDP-glucuronosyltransferase 2B family are located in a cluster on chromosome 4q13 and code for enzymes whose gene products are responsible for the normal catabolism of steroid hormones. Two members of this family, UGT2B15 and UGT2B17, share over 95% sequence identity. However, UGT2B17 exhibits broader substrate specificity due to a single amino acid difference. Using gene-specific primers to explore the genomic organization of these two genes, it was determined that UGT2B17 is absent in some human DNA samples. The gene-specific primers demonstrated the presence or absence of a 150 kb genomic interval spanning the entire UGT2B17 gene, revealing that UGT2B17 is present in the human genome as a deletion polymorphism linked to UGT2B15. Furthermore, it is shown that the UGT2B17 deletion polymorphism shows Mendelian segregation and allele frequencies that differ between African Americans and Caucasians.
机译:人类UDP-葡萄糖醛酸糖基转移酶2B家族的成员位于4q13号染色体上的簇中,编码其基因产物负责类固醇激素正常分解代谢的酶。该家族的两个成员UGT2B15和UGT2B17拥有超过95%的序列同一性。然而,由于单个氨基酸差异,UGT2B17表现出更广泛的底物特异性。使用基因特异性引物探索这两个基因的基因组结构,可以确定某些人类DNA样品中不存在UGT2B17。基因特异性引物证明存在或不存在跨越整个UGT2B17基因的150 kb基因组间隔,这表明UGT2B17以与UGT2B15连锁的缺失多态性存在于人基因组中。此外,显示UGT2B17缺失多态性显示孟德尔分离和非裔美国人和高加索人之间的等位基因频率不同。

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