Thalassaemia intermedia caused by coinheritance of a beta-thalassaemia mutation and a de novo duplication of alpha-globin genes in the paternal allele
Thalassaemia intermedia caused by coinheritance of a beta-thalassaemia mutation and a de novo duplication of alpha-globin genes in the paternal allele
复制标题
中间型地中海贫血是由β-地中海贫血突变和父系等位基因中α-珠蛋白基因的从头重复共同遗传引起的
DOI：
10.1111/bjh.15958
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发表时间：
2019
影响因子：
6.5
通讯作者：
Xu Xiangmin
中科院分区：
文献类型：
--
作者：
Pang Dejian;Shang Xuan;Cai Decheng;Zhu Fei;Cheng Yi;Zhong Jianmei;Yi Sheng;Zhang Qianqian;Xu Xiangmin
下一代测序在中国中间型地中海贫血患者的 α-珠蛋白基因簇中鉴定出 204 kb 的串联重复 (αααα204)。单倍型分析表明，复制的染色体是父系起源的。对患者淋巴细胞、毛囊、颊粘膜细胞、其父亲的淋巴细胞和精子细胞的基因组 DNA 进行分子分析，排除了体细胞或生发嵌合体的可能性。分析还表明这种重复发生在精子发生过程中。断点处的微同源性被发现，并表明这种重复可能是由同源和非同源重组机制耦合形成的。
Next generation sequencing identified ade novo, 204 kb, tandem duplication (αααα204) in the α‐globin gene cluster of a Chinese thalassaemia intermedia patient. Haplotype analysis showed that the duplicated chromosome was of paternal origin. Molecular analysis of genomic DNA from the patient's lymphocytes, hair follicles, buccal mucosa cells, his father's lymphocytes and sperm cells excluded the possibility of somatic or germinal mosaicism. The analysis also indicated that this duplication arose during spermatogenesis. The microhomology in the breakpoint was found and suggested that this duplication could be formed by a coupled homologous and non‐homologous recombination mechanism.