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目的对1例眼皮肤白化病(OCA)患儿进行基于 DNA 的分型诊断,并在此基础上进行 OCA 产前基因诊断。方法应用 PCR 技术、DNA 序列测定技术和变性高效液相层析(DHPLC)技术,分析患儿及其父母的 OCA 相关基因,确定患儿的分型诊断和基因型后,于其母孕20周时取羊水,以 DNA 序列测定技术进行 OCA 产前基因诊断。结果先证者 TYR 基因未见突变,1对 P 基因分别存在 N476D 和 Y827H 突变。群体中100名表型正常者中未见此2种突变等位基因。胎儿获得了母源性 N476D 突变,未获得父源性 Y827H 突变,推测胎儿为表型正常的致病基因携带者。胎儿出生后表型正常,与产前基因诊断结果相符。结论成功开展了1例 OCA2产前基因诊断并发现2种致病性 P 基因新突变 N476D 和 Y827H,对今后开展该病的基础研究和预防与优生工作具有重要意义。
OBJECTIVE: To diagnose one case of ocular albinism (OCA) based on DNA typing and to diagnose OCA prenatal gene. Methods PCR, DNA sequencing and denaturing high performance liquid chromatography (DHPLC) were used to analyze the OCA-related genes in children and their parents. After confirming the typing and genotype of the children, When taking amniotic fluid, DNA sequencing technology for prenatal diagnosis of OCA. Results There was no mutation in TYR gene of probands, and N476D and Y827H mutations in P gene. None of the 100 normal phenotypes in the cohort found these two mutant alleles. Fetal access to maternal N476D mutation, did not obtain the parental Y827H mutation, speculated that the fetus as a normal phenotype carriers of pathogenic genes. Fetal phenotype normal after birth, consistent with the results of prenatal diagnosis. Conclusion One case of OCA2 prenatal gene diagnosis and two new pathogenic P gene mutations N476D and Y827H were successfully diagnosed. It is of great significance to carry out the basic research and prevention and eugenics in the future.