Ghosh Sujoy, Ghosh Papiya, Dey Subrata Kumar
Human Genetics Research Unit, Department of Zoology, Sundarban Hazi Desarat College (Affiliated to University of Calcutta), South 24 Parganas, Pathankhali, West Bengal, 743611, India,
J Community Genet. 2014 Apr;5(2):119-24. doi: 10.1007/s12687-013-0159-8. Epub 2013 Jul 16.
We conducted a survey to analyze the genetic epidemiology of trisomy 21 Down syndrome births in the Sundarban delta region of India. In this region, inhabitants are chiefly from marginalized poor tribal communities and have lived in extremely low socioeconomic condition for several generations. Microsatellite genotyping revealed an meiosis I/meiosis II ratio that is different from the previous reports on the Down syndrome populations from other parts of the world. Analyses of distribution of achiasmate nondisjunction at maternal meiosis I in interaction with different maternal age groups (young, middle, and old) revealed a very concordant pattern to that of urban and semi-urban Down syndrome cases previously studied by our group. However, the frequency of achiasmate meiosis is much lower, which suggests that extreme low socioeconomic exposure imparts risk of chromosomal nondisjunction even when the maternal chromosomes 21 engage in proper chiasma formation at prophase I of oogenesis.
我们开展了一项调查,以分析印度孙德尔本斯三角洲地区21三体唐氏综合征患儿出生情况的遗传流行病学。该地区居民主要来自边缘化的贫困部落社区,几代人都生活在极低的社会经济条件下。微卫星基因分型显示,减数分裂I/减数分裂II的比例与世界其他地区唐氏综合征人群的先前报道不同。对母体减数分裂I时无交叉分离分布与不同母体年龄组(年轻、中年和老年)相互作用的分析显示,与我们小组之前研究的城市和半城市唐氏综合征病例模式非常一致。然而,无交叉减数分裂的频率要低得多,这表明即使母体21号染色体在卵子发生前期I进行了适当的交叉形成,极端低的社会经济暴露也会带来染色体不分离的风险。