Related Experiment Video
Updated: Jun 3, 2026
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]
Cong-Min Li1, Feng-Yu Wang, Wei-Wei Sun
1Henan Provincial Research Institute of Population and Family Planning, Henan Key Laboratory of Intervention Technology for Birth Defects, Zhengzhou 450002, China. licongmin676@sohu.com
Abstract:
We identified and characterized a Chinese family with autosomal dominant Brachydactyly type B1 (BDB1). Linkage analysis revealed that the disease gene of the Chinese BDB1 family was linked to ROR2 locus. Mutational hot spot of ROR2 gene was amplified by polymerase chain reaction (PCR) and sequenced directly. A c.2265C>A heterozygous mutation was detected in all of the patients. This mutation led to the change of p.Y755X in protein level and a truncated ROR2 protein losing integrant domains was generated. The mutation was detected in all the patients, but not in all the normal individuals of this family and 50 normal controls. This paper for the first time reported a c.2265C>A mutation in ROR2 gene of a family with BDB1 in China, which enriches ROR2 gene mutation spectrum in Chinese with BDB1.
Related Concept Videos
01:35Pedigree Analysis
01:39Mutations
02:59Animal Mitochondrial Genetics
01:43Incomplete Dominance
01:11Genetic Lingo
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...