Related Experiment Video
Updated: Nov 12, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel RHD allele, with c.491A > T (p.Asp164Val) mutation, identified via family pedigree analysis
Jing Wang1, Wenjun Que1, Yan Xing1
1Department of Blood Transfusion, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Abstract:
A Chinese Han man was confirmed to carry an RHD variation by serological tests, and exons 1 through 10 of the RHD gene were analyzed by sequence-specific primer-polymerase chain reaction. To clarify the nature of this mutation, Sanger sequencing was used and a c.491A > T mutation was identified in exon 4. The proband inherited this mutation from his father, as determined from a family pedigree.
More Related Videos
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Related Concept Videos
01:43Incomplete Dominance
01:11Genetic Lingo
01:35Pedigree Analysis
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...