Mutation analysis in a large Chinese pedigree affected with preaxial polydactyly II.
10.3760/cma.j.issn.1003-9406.2019.06.020
- Author:
Zhitao ZHANG
1
;
Yuan LYU
1
;
Jesse LI-LING
2
;
Caixia LIU
1
Author Information
1. Department of Gynecology & Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China. Email: liucx1716@163.com.
2. State Key Laboratory of Biotherapy, Sichuan University, Chengdu, Sichuan 610041, China.
- Publication Type:Journal Article
- MeSH:
DNA Mutational Analysis;
Female;
Humans;
Mutation;
Pedigree;
Polydactyly;
Thumb
- From:
Chinese Journal of Medical Genetics
2019;36(6):610-612
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect potential mutation in a large pedigree affected with preaxial polydactyly II.
METHODS:With informed consent obtained, peripheral blood samples were collected from the proband, her family members as well as 100 healthy controls. Genomic DNA was extracted. The zone of polarizing activity regulatory sequence (ZRS) of the SHH gene was amplified by PCR and subjected to bi-directional Sanger sequencing.
RESULTS:The pedigree had typical preaxial polydactyly II. A heterozygous C>G mutation at position 105 of the ZRS region was detected in all patients but none of the unaffected members and 100 healthy controls.
CONCLUSION:The heterozygous 105C>G mutation of the ZRS region probably underlies the disease in this pedigree.
