Genetic study of a Chinese pedigree affected with pachyonychia congenita
10.3760/cma.j.issn.1003-9406.2019.10.008
- VernacularTitle: 一个先天性厚甲症家系的遗传学研究
- Author:
Feiyue ZHAO
1
;
Biying XING
2
;
Jifang XIAO
1
;
Xiuli ZHAO
1
Author Information
1. Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences - School of Basic Medicine, Peking Union Medical College, Beijing 100005, China
2. Beijing No. 65 Middle School, Beijing 100006, China
- Publication Type:Journal Article
- Keywords:
Pachyonychia congenita;
Keratin 17;
Genetic mutation;
Haplotype analysis;
High-resolution melting analysis
- From:
Chinese Journal of Medical Genetics
2019;36(10):985-988
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a Chinese pedigree affected with pachyonychia congenita (PC).
Methods:With informed consent obtained, peripheral blood samples were taken from the pedigree. Genomic DNA was extracted with a phenol/chloroform method. Based on the clinical manifestation of the patients, candidate genes for PC were selected. Potential mutation was screened by PCR and Sanger sequencing. Suspected mutation was verified in other family members by PCR-high resolution melting (HRM) analysis. Haplotype analysis using microsatellite markers was also carried out to determine the founder of the mutation.
Results:A heterozygous c. 275A>G (Asn92Ser) mutation was discovered in exon 1 of the KRT17 gene in the proband. PCR-HRM analysis showed that all affected members were heterozygous carriers of the mutation. The same mutation was found in none of the unaffected members. Haplotype analysis and sequencing indicated the mother of the proband to be the founder.
Conclusion:The c. 275A>G (Asn92Ser) mutation of the KRT17 gene probably underlies the disease in this pedigree. Above finding has facilitated genetic counseling and prenatal diagnosis for this pedigree.
