[基于纳米孔测序的甲型血友病基因倒位分析]
[Analysis of gene inversion in Hemophilia A by Nanopore sequencing].
作者信息
Dai Peng, Feng Yin, Zhu Chaofeng, Kong Xiangdong
机构信息
Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jun 10;38(6):521-525. doi: 10.3760/cma.j.cn511374-20200630-00481.
OBJECTIVE
To detect gene inversion in two pedigrees affected with Hemophilia A by using Nanopore sequencing technology.
METHODS
Peripheral blood samples were taken from members of the two pedigrees. Following extraction of genome DNA, genetic variants of the carriers were detected by Nanopore sequencing and subjected to bioinformatic analysis.
RESULTS
Nanopore sequencing has identified the niece of the proband of the pedigree 1 as carrier of Hemophilia A Inv22, and the mother of the proband of the pedigree 2 as carrier of Hemophilia A Inv1, which was consistent with clinical findings. Breakpoint sites in both pedigrees were accurately mapped. Statistical analysis of the sequencing results revealed a large number of variations in the carriers' genomes including deletions, duplications, insertions, inversions and translocations.
CONCLUSION
Nanopore sequencing can be used to analyze gene inversions associated with Hemophilia A, which also provided a powerful tool for the diagnosis of diseases caused by gene inversions.
目的
运用纳米孔测序技术检测两个甲型血友病家系中的基因倒位情况。
方法
采集两个家系成员的外周血样本。提取基因组DNA后，通过纳米孔测序检测携带者的基因变异，并进行生物信息学分析。
结果
纳米孔测序已确定家系1先证者的侄女为甲型血友病Inv22携带者，家系2先证者的母亲为甲型血友病Inv1携带者，这与临床诊断结果相符。两个家系中的断点位置均被精确绘制。对测序结果的统计分析显示，携带者基因组中存在大量变异，包括缺失、重复、插入、倒位和易位。
结论
纳米孔测序可用于分析与甲型血友病相关的基因倒位情况，这也为诊断由基因倒位引起的疾病提供了有力工具。
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