Analysis of gene inversion in Hemophilia A by Nanopore sequencing.
10.3760/cma.j.cn511374-20200630-00481
- Author:
Peng DAI
1
;
Yin FENG
;
Chaofeng ZHU
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Chromosome Inversion/genetics*;
Hemophilia A/genetics*;
Humans;
Introns;
Nanopore Sequencing;
Pedigree
- From:
Chinese Journal of Medical Genetics
2021;38(6):521-525
- CountryChina
- Language:Chinese
-
Abstract:
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.
