新生儿疾病筛查人群中CYP21基因P30L和V281L突变携带者频率的研究

Carrier frequency of CYP21 gene with P30L and V281L mutation in neonatal screening population

目的研究新生儿疾病筛查人群中CYP21基因P30L和V281L突变杂合子的频率分布。方法58份新生儿干血滤纸片测定17—OHP，同时提取新生儿脐带血DNA，应用PCR扩增和限制性内切酶分析P30L和V281L两种与21-OHD相关的CYP21基因突变，计算杂合子频率。结果在116个等位基因中有1个鉴定出P30L突变，未鉴定出V281L突变。本研究人群中P30L的携带者频率为0．9％，V281L的携带者频率为0。结论本研究新生儿筛查正常人群中可检出CYP21基因突变携带者，对人群中CYP21基因突变携带者的研究有助于对漏检21-OHD的基因突变分析。

Objective To study carrier frequency of CYP21 gene mutations in neonatal screening population. Method 17-OHP on 58 neonatal dry blood filters for screening were detected. DNAs of each umbilical cord blood were extracted, PCR and restriction endonucleases were used to identify the P30L and V281L mutations. Result One P30L mutation were found in 116 alleles, and no V281L. Carrier frequencies of P30L and V281L were 0.9% and 0% in this population. Conclusion The observed CYP21 mutation carrier frequency in screening negative population suggests which would be relative with the 21-OHD missed in the neonatal screening.