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目的分析一例X连锁隐性遗传的Kallmann综合征家系的KAL-1基因突变,对家系成员进行突变筛查。方法从先证者及其部分近亲属的外周血中提取DNA,经体外扩增后进行基因测序。针对突变位点设计引物,进行聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)分析。结果 KAL-1基因的外显子4上一个碱基发生错义突变(c.487T>C,p.163Cys>Arg),PCR-RFLP结果表明突变与疾病共分离。结论实验结果可用于该家系成员的早期诊断和遗传咨询,从而降低该病的再发风险。
Objective To analyze a case of KAL-1 gene mutation in X-linked recessive Kallmann syndrome pedigree and to screen mutation of family members. Methods DNA was extracted from the peripheral blood of proband and its close relatives, and sequenced after amplification in vitro. Primers were designed for the mutation sites and PCR-RFLP analysis was performed. Results The missense mutation was found in exon 4 of KAL-1 gene (c.487T> C, p.163Cys> Arg). PCR-RFLP showed that the mutation was co-segregated with the disease. Conclusion The experimental results can be used for early diagnosis and genetic counseling of members of the pedigree, thus reducing the risk of recurrence of the disease.