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首页> 外文期刊>Journal of genetics >Homozygosity stretches around homozygous mutations in autosomal recessive disorders: patients from nonconsanguineous Indian families
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Homozygosity stretches around homozygous mutations in autosomal recessive disorders: patients from nonconsanguineous Indian families

机译：纯合子在常染色体隐性疾病中均匀突变突出：来自非通用印度家庭的患者

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India has a large heterogeneous population with its unique social and genetic characteristics. Tradition of marriage betweenspecific caste groups have produced unique characteristics to the mutation spectrum of genetic disorders and may be a higher prevalence ofautosomal recessive (AR) disorders in some communities. We observed that in many nonconsanguineous families with rare autosomaldisorders, maternally and paternally inherited mutations are same, indicating common ancestor. In this era of genomic techniques, findinghomozygous regions have become easy. It was seen that the patients with AR disorders, who were homozygous for the disease causingpathogenic / likely pathogenic variations, have large stretches (0.6–188 Mb) of homozygosity around the causative sequence variations.SNP microarray data of patients from consanguineous and nonconsanguineous families also showed that even patients from nonconsanguineousfamilies had 3–49 Mb size regions of homozygosity. Long stretches of homozygosity around homozygous rare pathogenicvariants in nonconsanguineous families with rare AR disorders supports the notion that these couples may have a common ancestor formore than six generations and the system of marriages between same groups. Hence, using the strategy of homozygosity by descent even innonconsanguineous families can be fruitful in identifying the novel pathogenic variations and novel genes.
机译：印度具有大量的异质人口，具有独特的社会和遗传特征。 Belfenspectific Caste组之间的婚姻传统为遗传疾病的突变谱产生了独特的特征，并且可能是某些社区中的染色体隐性（AR）疾病的更高普遍性。我们观察到，在许多具有稀有自染素的家族中，潜水和患者遗传突变是相同的，表明共同的祖先。在这种基因组技术的时代，发现Homozygous地区变得容易。有人看来，患有对疾病的雌性的AR疾病的患者导致致病/可能的致病变异，具有大的延伸（0.6-188MB）的纯合子围绕致病序列变异。来自近亲和非通用家族的患者的微阵列数据也是如此表明，即使是非非通用术患者均具有3-49 MB大小的纯合子区域。长长的纯合子纯合子纯合均匀致病性差异，罕见的家庭罕见的ar紊乱支持这些夫妻的概念，即这些夫妻可能具有比六代和同一组之间的婚姻系统。因此，在鉴定新的致病变异和新基因时，甚至是纯合金均匀的纯合子策略即使是innnonconsulyous的策略也可以富有成效。

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