Related Experiment Video
Updated: May 30, 2026
Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
Published on: July 3, 2020
[Genotype-phenotype analysis of a Chinese family with split hand/split foot and syndactyly]
1National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China. Daili_diamondlaser@126.com
Objective:
To determine the causative gene mutation in a Chinese family with split hand/split foot malformation (SHFM) and explore the genotype-phenotype relationship.
Methods:
Genomic DNA was extracted from peripheral blood samples of the patients and their family members. Polymerase chain reaction (PCR) was performed to amplify all the exons of P63 gene and HOXD13 gene. Then the PCR products were sequenced bidirectionally to screen mutations.
Results:
A heterozygous 956G>A transversion in exon 7 of P63 gene was identified in all patients, which resulted in the substitution of histidine residue for arginine at position 280 of P63 protein (R280H). This mutation was not found in the unaffected family members.
Conclusion:
Patients in this pedigree are characterized by symmetrical split hand and split foot with syndactyly. This condition is caused by the R280H mutation in P63 gene.
Related Concept Videos
01:33Pleiotropy
01:35Pedigree Analysis
01:35Pedigree Analysis
01:43Incomplete Dominance
01:11Genetic Lingo
02:27Trihybrid Crosses
Some of Mendel’s crosses examined three pairs of contrasting characteristics. Such a cross is called a trihybrid cross. A trihybrid cross is a combination of three individual monohybrid crosses. For example, plant height (tall vs. short), seed shape (round vs. wrinkled), and seed color (yellow vs. green).
The F1 generation plants of a trihybrid cross are heterozygous for all three traits and produce eight gametes. Upon self-fertilization, these gametes have an equal chance to...