一个中国汉族家系共同性外斜视KIF21A基因的突变分析

Screening of KIF21A gene mutation in a Han family with concomitant exotropia

摘要:

目的：研究一个汉族家系共同性外斜视KIF21A基因的外显子突变情况及其意义。

方法： 收集就诊于合肥市第二人民医院眼科一共同性外斜视患者家系，提取家系中5位成员的外周血DNA，通过PCR扩增，Sanger测序与NCBI中的KIF21A基因序列进行同源性比较。

结果： 在我们收集的家系中没有检测到任何外显子基因突变，发现4个外显子附近的内含子突变，即c.735+85A>C、c.2664-49T>C、c.3985+45A>T、c.*472A>G。

结论： KIF21A基因可能不是我们收集的共同性外斜视家系的致病基因。

Abstract:

AIM: To study the KIF21A gene mutation in a Han family with concomitant exotropia.

METHODS: The genomic DNA of five family members was extracted from peripheral blood leukocytes and amplified with PCR. The PCR products were purified for DNA sequencing. DNA sequences were aligned with the human KIF21A gene sequences registered in GenBank.

RESULTS:Mutation analysis of all exons of the pedigree's KIF21A gene reveals no gene mutation in any of the families.

CONCLUSION: Our study demonstrates that the KIF21A gene maybe is not virulence gene in this pedigree.