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Thalassaemia intermedia caused by coinheritance of a β‐thalassaemia mutation and a de novo duplication of α‐globin genes in the paternal allele
Author(s) -
Pang Dejian,
Shang Xuan,
Cai Decheng,
Zhu Fei,
Cheng Yi,
Zhong Jianmei,
Yi Sheng,
Zhang Qianqian,
Xu Xiangmin
Publication year - 2019
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.15958
Subject(s) - genetics , biology , gene duplication , non allelic homologous recombination , breakpoint , haplotype , tandem exon duplication , gene , allele , mutation , microbiology and biotechnology , chromosome , genetic recombination , recombination
Summary Next generation sequencing identified a de novo , 204 kb, tandem duplication (αααα 204 ) 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.