scholarly journals Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness

2020 ◽  
Vol 8 (4) ◽  
Author(s):  
Di Wu ◽  
Weiyuan Huang ◽  
Zhenhang Xu ◽  
Shuo Li ◽  
Jie Zhang ◽  
...  
Keyword(s):  
Genetic Study ◽  
Nonsyndromic Deafness ◽  
Chinese Han

scholarly journals A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Xueling Wang ◽  
Longhao Wang ◽  
Hu Peng ◽  
Tao Yang ◽  
Hao Wu
Keyword(s):  
Sanger Sequencing ◽  
Pcr Amplification ◽  
Homozygous Mutation ◽  
Frequent Mutation ◽  
Nonsyndromic Deafness ◽  
Chinese Han ◽  
Targeted Next Generation Sequencing ◽  
Targeted Ngs ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Genetic hearing impairment is highly heterogeneous. In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness. Consistent with the recessive inheritance, cosegregation of the p.G141R variant with the hearing loss was confirmed in members of both families by PCR amplification and Sanger sequencing. SNP genotyping analysis suggested that those two families were not closely related. Our study showed that targeted NGS is an effective tool for diagnosis of genetic deafness and that p.G141R in ILDR1 may be a relatively frequent mutation for DFNB42 in Chinese Hans.

Genetic study of early-onset Graves’ disease in the Chinese Han population

2017 ◽  
Vol 93 (1) ◽  
pp. 103-110 ◽  
Author(s):  
F.-F. Yuan ◽  
X.-P. Ye ◽  
W. Liu ◽  
L.-Q. Xue ◽  
Y.-R. Ma ◽  
...  
Keyword(s):  
Genetic Study ◽  
Early Onset ◽  
Chinese Han Population ◽  
Graves Disease ◽  
Chinese Han ◽  
Han Population

A Genetic Study in Steer Progeny Groups during Successive Growth Periods

1957 ◽  
Vol 16 (1) ◽  
pp. 217-223 ◽  
Author(s):  
J. Urick ◽  
A. E Flower ◽  
F. S. Willson ◽  
C. E. Shelby
Keyword(s):  
Genetic Study
Sign in / Sign up

Export Citation Format

Share Document