Genetic analysis of carrier status in female members of Japanese hemophilia families.

ABSTRACT:

Background

Genetic characteristics and genetic carrier diagnosis in Japanese hemophilia female carriers have not been evaluated.

Objectives

To provide genetic information on Japanese hemophilia female carriers and demonstrate the advantages of genetic testing in carrier diagnosis.

Methods

DNA sequencing combined with long polymerase chain reaction for inversion and multiplex ligation-dependent probe amplification for large mutations.

Results

Genetic analysis was performed in 69 male hemophiliac patients (48 hemophilia A [HA] and 21 hemophilia B [HB]) and 112 female family members (FFM) (80 from 50 families with HA and 32 from 22 families with HB). In 72 hemophiliac families, the identified F8 mutations were inversion (42%), missense (26%), and other variations

SUBMITTER: Shinozawa K 

PROVIDER: S-EPMC8251972 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature