摘要
目的:分析产前基因检测在同型地中海贫血(简称地贫)基因携带者中应用价值。方法:选择2019年4月—2021年4月高州市妇幼保健院进行优生优育咨询或产生检查的孕妇及配偶,针对疑似为阳性地贫基因携带者夫妇98对进行基因诊断。其中78对夫妇双方均为α-地贫基因携带者,16对均为β-地贫基因携带者,4对为复合α、β-地贫基因携带者。采集夫妇双方静脉血各2 mL,对羊水进行抽取20 mL,提取基因组DNA,采用单管多重α-地贫基因检测试剂盒(GapPCR)技术与聚合酶链反应—反向斑点杂交法(PCR-RDB)技术检测α-珠蛋白基因缺失型、突变型与β-珠蛋白基因突变型。分析基因检测结果及胎儿染色体核型结果。结果:78对α-地贫基因携带者基因检测中-SEA/αα占比最高为38.46%,--SEA/--SEA占比次之为16.67%;16对β-地中海贫基因携带者基因检测中CD17(A→T)/N占比最高为25.00%,CD17(A→T)/CD17(A→T)、CD26(GAG>AAG)/N、N/N占比次之,均为12.50%;4对复合α-、β-地贫基因携带者中重型、中间型各1例,轻型2例;98例胎儿染色体核型分析结果显示有11例染色体正常变异,1例add(13)(p13),86例46XN;98对夫妇均进行优生遗传咨询,其中18例重型地中海贫患儿均进行了引产。结论:对同型地中海贫血基因携带者中进行产前基因检测发现α、β地贫基因型分别以-SEA、CD17(A→T)为主,可依据产前基因检测结果为孕妇及其家属提供有效的遗传咨询,以防止重型地贫患儿的出生。
Objective:To analyze the application value of prenatal genetic testing in carriers of the same type of thalassemia gene.Methods:Pregnant women and spouses selected for eugenic counseling or generating tests in hospitals from April 2019 to April 2021,and 98 couples suspected to be positive ground poverty gene carriers were subjected to genetic diagnosis.Among them,78 couples were carriers of bothα-digox genes,16 couples were carriers of bothβ-digox genes,and 4 couples were carriers of combinedα-andβ-digox genes.2 mL of venous blood was collected from both couples,20 mL of amniotic fluid was extracted,and genomic DNA was extracted and detected by single-tube multiplex Gap-PCR technique and PCR-RDB technique forα-cadherin gene deletion,mutation andβ-cadherin gene mutation.Genetic test results and fetal karyotype results were analyzed.Results:The highest percentage of-SEA/ααwas 38.46%and the second highest percentage of--SEA/-SEA was 16.67%in 78 pairs ofα-lesion gene carriers.The highest percentage of CD17(A→T)/N was 25.00%in 16 pairs ofβ-digoxin gene carriers,followed by CD17(A→T)/CD17(A→T),CD26(GAG>AAG)/N,and N/N,all with 12.50%.1 case of heavy type,1 case of intermediate type and 2 cases of light type in 4 pairs of compoundα-andβ-digoxin gene carriers.The karyotype analysis of 98 fetuses showed 11 cases of normal chromosomal variants,1 case of add(13)(p13),and 86 cases of 46XN.All 98 couples underwent eugenic genetic counseling,and 18 of these children with severe geodeprivation were induced.Conclusion:Prenatal genetic testing among homozygous thalassemia gene carriers revealed that theαandβthalassemia genotypes are predominantly-SEA and CD17(A→T),respectively,and effective genetic counseling can be provided to pregnant women and their families based on the results of prenatal genetic testing to prevent the birth of children with thalassemia major.
作者
黎雪华
董锦莲
周伟敏
LI Xue-hua;DONG Jin-lian;ZHOU Wei-min(Department of Gynecology,Gaozhou Maternal and Child Health Hospital,Gaozhou,Guangdong,525200,China)
出处
《黑龙江医学》
2023年第9期1100-1102,共3页
Heilongjiang Medical Journal