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首页> 外文期刊>Annals of Human Genetics >PKU in Minas Gerais State, Brazil: mutation analysis.
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PKU in Minas Gerais State, Brazil: mutation analysis.

机译：巴西米纳斯吉莱斯州的北京大学：突变分析。

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This work was undertaken in order to ascertain the PKU mutational spectrum in Minas Gerais, Brazil, the relative frequency of the mutations in the State and the origin of these mutations by haplotype determination. Minas Gerais is a trihybrid population formed by miscegenation from Europeans, Africans and Amerindians. All 13 exons of the PAH gene from 78 PKU patients were analyzed, including splicing sites and the promoter region. We identified 30 different mutations and 98% of the PAH alleles were established. A new mutation (Q267X) was identified as well. The most common mutations found were V388M (21.2), R261Q (16.0%), IVS10-11G>A (15.3%), I65T (5.8%), IVS2+5G>C (5.8%), R252W (5.1%), IVS2+5G>A (4.5%), P281L (3.8%) and L348V (3.2%). These nine mutations correspond to 80% of the PKU alleles in the state. Haplotypes were determined to characterize the origin of the PAH alleles. The majority of the mutations found, with respective haplotypes, are frequent in the Iberian Peninsula. However, there were some mutations that are rare in Europe and four previously unreported mutation-haplotype associations. I65T and Q267X were found in association with haplotype 38 and may be African in origin or the result of miscegenation in the Brazilian population.
机译：进行这项工作是为了通过单倍型测定来确定巴西米纳斯吉拉斯州的PKU突变谱，该州突变的相对频率以及这些突变的起源。米纳斯吉拉斯州是由欧洲人，非洲人和美洲印第安人的种族歧视形成的三杂种种群。分析了来自78名PKU患者的所有13个PAH基因外显子，包括剪接位点和启动子区域。我们鉴定出30个不同的突变，并建立了98％的PAH等位基因。还发现了一个新的突变（Q267X）。发现的最常见突变是V388M（21.2），R261Q（16.0％），IVS10-11G> A（15.3％），I65T（5.8％），IVS2 + 5G> C（5.8％），R252W（5.1％），IVS2 + 5G> A（4.5％），P281L（3.8％）和L348V（3.2％）。这九个突变对应于该州80％的PKU等位基因。确定单倍型以表征PAH等位基因的起源。在伊比利亚半岛，发现的大多数突变具有各自的单倍型。但是，有些突变在欧洲很罕见，并且有四个以前未报道的突变-单倍型关联。发现I65T和Q267X与38型单体型相关，可能起源于非洲或在巴西人口中发生了致突变的结果。

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