摘要
目的 了解贵州少数民族地区育龄夫妇β-地中海贫血（简称β-地贫）的携带率及其常见突变基因的类型和频率.方法 以全自动血细胞分析仪和血红蛋白自动分析仪VARIANT对3500名贵州6县市少数民族地区育龄夫妇进行β-地贫血液学筛查,β-地贫的表型诊断标准为：平均红细胞体积≤82 f1和血红蛋白A2≥3.5%,并利用PCR-反向点杂交法对筛查出的194例阳性对象进行中国人常见18种突变基因检测分析,未知突变采用DNA直接测序法进行分析.结果 3500人中检出β地贫基因突变189人,人群中β-地贫基因携带率为5.4%,共检出10种突变基因,最常见的前5种依次足：CD1 7（43.9%）、CD41-42（38.6%）、IVS-Ⅱ-654（10.1%）、-28（2.6%）、CD71-72（1.6%）,并在中国人群中发现了1种β珠蛋白基因-CD53（-T）新的突变,1例IntM为国内少见突变.结论 贵州少数民族地区是同内β地贫发生率较高和基因背景较复杂的地区,加大对育龄夫妇群体进行β地贫的血液学筛查和常见突变基因的诊断,对开展β地贫群体干预和人类学研究具有重要意义.
Objective To investigate the gene mutation frequencies and patterns of β-thalassemia （β-thal） in the minority populations of Guizhou proince. Method Three thousand and five hundred couples in the reproductive age were screened by using automatic hemocyte analyzer and hemoglobin autoanalyzervariant. The diagnostic criteria for β-thal were： the mean corpuscular volume （MCV） was ≤82 fl, and the HbA2 level was ≥3. 5%. A total of 194 positive samples were detected and further identified by PCR-reverse dot blot, PCR-RDB） assay for 18 common β-thal mutations in Chinese population. Those subjects with positive phenotypes but without the 18 common β-thal mutations were subjected to DNA sequence analysis of the β-globin gene. Result One hundred and eighty-nine samples with gene mutations were observed from the 3500 samples, with the incidence of β-thal being 5. 4 %. A total of 10 different β-thal mutations were identified from the 189 diagnosed samples. The five most common mutations were as the following：CD17 （43. 9%）, CD41-42 （38.6%）, IVS-Ⅱ-654 （10. 1%）, -28 （2. 6%） and CD71-72（1.6%）. In addition, a novel β-globin gene mutation （-CD53） allele was detected. One rare mutation of IntM was observed. Conclusion The minority population in Guizhou province is of high risk of β-thal. It is recommended that more attention should be paid to detect the carriers of β-thal in the population in reproductive age by hematologic screening and common gene diagnosis in the area with high risk of β-thal.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2010年第6期700-703,共4页
Chinese Journal of Medical Genetics
基金
贵州省科技厅十一五重大科技专项目（黔科重大专项[2007]6011）
贵州省人口和计生委资助项目（黔计生[2006]0603）
