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.

Peng Dai

Yin Feng

Chaofeng Zhu

Xiangdong Kong

Zhonghua yixue yichuanxue zazhi

Chinese Journal of Medical Genetics is one of the journals of Chinese Medical Association. It was established in West China University of Medical Sciences in 1984 with the name “Heredity and Disease ”. In 1992, it was renamed Chinese Journal of Medical Genetics . The sponsor is Chinese Medical Association, and Sichuan University is the delegated unit for publication. It has an editorial board of China’s top scientists in the field, and has established an international advisory board in 2003. The aim of this journal is to report medical genetics, human genetics, and related researches in China.

The Chinese Journal of Medical Genetics is one of the journals under the Chinese Medical Association. It was established in 1984 at West China University of Medical Sciences, originally named 'Heredity and Disease'. In 1992, it was renamed the Chinese Journal of Medical Genetics. The journal is sponsored by the Chinese Medical Association, with Sichuan University as the designated publishing unit. Its editorial board consists of leading scientists in the field of medical genetics in China, and an international advisory board was established in 2003. The aim of this journal is to report on the latest developments in medical genetics, human genetics, and related research in China.

《Chinese Journal of Medical Genetics》是中国医学会旗下的期刊之一，创办于1984年，最初名为《遗传与疾病》，由西华大学医学科学学院主办。1992年更名为《Chinese Journal of Medical Genetics》。该期刊的赞助单位为中国医学会，出版单位为四川大学。期刊的编辑委员会由中国医学遗传学领域的顶尖科学家组成，并于2003年建立了国际顾问委员会。该期刊旨在报道中国在医学遗传学、人类遗传学及相关研究领域的最新进展。

Analysis of gene inversion in Hemophilia A by Nanopore sequencing

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