A Mayan founder mutation is a common cause of deafness in Guatemala.
A Mayan founder mutation is a common cause of deafness in Guatemala.
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DOI：
10.1111/cge.12676
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发表时间：
2016-04
影响因子：
3.5
通讯作者：
Tekin M
中科院分区：
文献类型：
--
作者：
Carranza C;Menendez I;Herrera M;Castellanos P;Amado C;Maldonado F;Rosales L;Escobar N;Guerra M;Alvarez D;Foster J 2nd;Guo S;Blanton SH;Bademci G;Tekin M
超过5%的世界人口有不同程度的听力损失。GJB2基因突变是许多人群中常染色体隐性非综合征性听力损失（NSHL）的最常见原因。突变的频率和类型受种族的影响。危地马拉是一个多民族国家，有四个主要人口：玛雅人、拉迪诺人、新卡人和加里富纳人。为了确定危地马拉NSHL人群中GJB2的突变谱，我们对133个无亲缘关系家庭的GJB2的两个外显子进行了测序。共检测到6种致病变异。最常见的致病变异是c.131G>A (p.Trp44*)，在266个等位基因中的21个中检测到。我们发现c.131G >a与危地马拉的一个保守单倍型有关，这表明只有一个创始人。大多数玛雅人生活在该国的西部地区，那里是所有c.131G . b> . A携带者的发源地。进一步分析携带c.131G b> A突变的个体与美洲原住民、欧洲人和非洲人的基因组变异，结果显示与玛雅人的基因组变异非常接近。
Over 5% of the world population have varying degrees of hearing loss. Mutations in GJB2 are the most common cause of autosomal recessive non-syndromic hearing loss (NSHL) in many populations. The frequency and type of mutations are influenced by ethnicity. Guatemala is a multi-ethnic country with four major populations: Maya, Ladino, Xinca, and Garifuna. To determine the mutation profile of GJB2 in a NSHL population from Guatemala, we sequenced both exons of GJB2 in 133 unrelated families. A total of six pathogenic variants were detected. The most frequent pathogenic variant is c.131G>A (p.Trp44*) detected in 21 of 266 alleles. We show that c.131G>A is associated with a conserved haplotype in Guatemala suggesting a single founder. The majority of Mayan population lives in the west region of the country from where all c.131G>A carriers originated. Further analysis of genome-wide variation of individuals carrying the c.131G>A mutation compared to those of Native American, European, and African populations shows a close match with the Mayan population.