分类号：R714.55
出版年·卷·期（页码）：2018·10·第3期（30-33）
DOI:
10.13470/j.cnki.cjpd.2018.03.008
-----摘要：-------------------------------------------------------------------------------------------
目的 采用二代测序技术对一白化病家系进行相关基因突变的检测，了解携带者的突变类型，并依据检测结果提供相应的遗传咨询指导意见。方法 采集先证者及其家系成员外周血并提取基因组DNA，对先证者进行白化病18个相关基因编码外显子序列分析，结合生物信息学分析基因突变位点，然后利用Sanger测序对可疑致病位点进行验证。结果 18个相关基因编码外显子序列分析结果显示，先证者存在OCA2基因c.406C>T（R136*）杂合复合OCA2基因c.1922C>T（S641L）杂合突变，父母双方表型正常，父亲基因型为OCA2基因c.406C>T（R136*）杂合突变，母亲基因型为OCA2基因c.1922C>T（S641L）杂合突变，经生物信息学分析认为上述突变位点为致病性突变的可能性大。结论 借助于二代测序技术可以更加快速地检测基因突变位点，为临床指导白化病家庭进行优生优育，预防二胎白化病再发提供科学指导。
-----英文摘要：---------------------------------------------------------------------------------------
Objective To detect the pathogenic genes of a family with albinism by next-generation sequencing and provide genetic counseling according to the results. Method Collecting proband and family members peripheral blood and extraction of genomic DNA , all exons of the 18 albinism related genes were subjected to deep sequencing. The mutation sites were analyzed by bioinformatics and then verified by Sanger sequencing. Results Sequence analysis was carried out on the coding region of related genes. The proband genotype is OCA2 gene c.406C>T (R136*) heterozygous complex c.1922C>T (S641L) heterozygous. Parents have normal phenotype, the father genotype is OCA2 gene c.406C>T (R136*) heterozygous , and mother genotype is OCA2 c.1922C>T (S641L) heterozygous. Bioinformatics analysis suggests that the above mutation is likely to be a pathogenicity mutation. Conclusions With the help of the next generation sequencing，we can detect gene mutations more quickly, it also provide scientific guidance for albinism family.
-----参考文献：---------------------------------------------------------------------------------------
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曾玉坤,刘玲,余丽华,丁红珂,张彦.二代测序技术在白化病家系检测中的应用及突变分析.中国产前诊断杂志,2018,10(3):30-33.
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