[一个患II型轴前多指（趾）畸形的中国大家系的突变分析]
[Mutation analysis in a large Chinese pedigree affected with preaxial polydactyly II].
作者信息
Zhang Zhitao, Lyu Yuan, Li-Ling Jesse, Liu Caixia
机构信息
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:
State Key Laboratory of Biotherapy, Sichuan University, Chengdu, Sichuan 610041, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):610-612. doi: 10.3760/cma.j.issn.1003-9406.2019.06.020.
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.
目的
检测一个患有Ⅱ型轴前多指（趾）症的大家系中的潜在突变。
方法
在获得知情同意后，采集了先证者、其家庭成员以及100名健康对照者的外周血样本。提取基因组DNA。通过聚合酶链反应（PCR）扩增音猬因子（SHH）基因的极化活性调节序列（ZRS）区域，并进行双向桑格测序。
结果
该家系具有典型的Ⅱ型轴前多指（趾）症。在所有患者中检测到ZRS区域第105位存在杂合的C>G突变，但未患病成员和100名健康对照者均未检测到该突变。
结论
ZRS区域的杂合105C>G突变可能是该家系中该疾病的病因。
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