Shenzhen University Health Sciences Center, School of Basic Medical Sciences, Department of Physiology, Shenzhen, 518061, China.
BGI-Yunnan, BGI-Shenzhen, Kunming, 650106, China.
Sci Rep. 2019 Apr 2;9(1):5472. doi: 10.1038/s41598-019-41905-8.
Regional gender differences in autosomal chromosome disorders have been observed repeatedly. However, the corresponding diversity changes remain unconfirmed. By analyzing previously published thalassemia data from the Dai people in Dehong and Xishuangbanna (two regions in Yunnan Province, China), we found that several sequence types, including HBA CNV and HBB mutations, significantly depend on gender in Xishuangbanna but not in Dehong. With the supportive evidence from previous researches, we accept that some certain mutations depend on gender regionally. This association seems peculiar. It is among one common people on a small geographical scale, while other recorded thalassemia gender difference varies by ethnics and continent.
已经观察到常染色体染色体疾病存在区域性性别差异。然而，相应的多样性变化尚未得到证实。通过分析来自中国云南省德宏和西双版纳（两个地区）傣族人群的先前发表的地中海贫血数据，我们发现包括 HBA CNV 和 HBB 突变在内的几种序列类型在西双版纳显著依赖于性别，而在德宏则不然。有了先前研究的支持证据，我们接受某些特定突变在区域上依赖于性别。这种关联似乎很特殊。它是在小地理范围内的一个普通人群中，而其他记录的地中海贫血性别差异因种族和大陆而异。
