Related Experiment Video
Updated: Aug 8, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[Mutation detection in ED1 gene in hypohidrotic ectodermal dysplasia (HED) families]
Ying Wang1, Hongshan Zhao, Xiaoxia Zhang
1Department of Prosthodontics, Peking University School of Stomatology, Beijing 100081, China.
Objective:
To detect ED1 gene mutation in three hypohidrotic ectodermal dysplasia (HED) nuclear families.
Methods:
Peripheral blood samples were obtained from three different families of hypohidrotic ectodermal dysplasia. Genomic DNA was extracted. Polymerase chain reaction, direct sequencing and restriction enzyme reaction were performed to identify the mutations.
Results:
Different missense mutation in ED1 gene were found in each family: C412G, A1201G and C1375T. Two of the mutations had not been previously reported.
Conclusion:
Mutations in the ED1 gene are responsible for the phenotypes of HED of the patients in the family.
Related Concept Videos
01:35Pedigree Analysis
01:38Nucleotide Excision Repair
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
01:20Mismatch Repair
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...