目的 探讨乌鲁木齐市维吾尔族与汉族新生儿脐带血中谷胱甘肽s转移酶(GST)M1与T1基因多态性与低出生体重的关系。方法 采用1∶3病例对照研究方法,收集新生儿脐带血并提取DNA,采用多重等位基因特异聚合酶链反应(PCR)方法分析GSTM1和GSTT1基因多态性。结果 GSTM1缺失基因型为60.5%,GSTT1缺失基因型为5%,同时具有GSTM1和GSTT1缺失基因型的频率为3.5%。正常出生体重新生儿脐血中GSTT1基因型缺失的频率与低出生体重儿之间差异有统计学意义(P<0.05)。GSTT1基因型缺失的频率在维吾尔族正常与低出生体重新生儿间差异有统计学意义(P<0.05)。维吾尔族正常出生体重与低出生体重新生儿间各组合基因型频率构成比分布差异有统计学意义(P<0.05)。结论 脐血中GSTT1基因型缺失可能会增加新生儿低出生体重的发生,也会增加维吾尔族新生儿低出生体重的发生。而脐血中GSTM1基因型缺失可能不会影响新生儿低出生体重的发生。维吾尔族不同出生体重新生儿间各组合基因型频率构成比分布有差异。因此应全面了解低出生体重发生的原因,从而提高新生儿的出生质量。

Objective To investigate the relationship between umbilical cord blood glutathione S-transferase (GST) M1,T1 genetic polymorphism in the Urumqi Uygur and Han newborns with low birth weight. Methods By 1∶3 matched case-control study methods,umbilical cord blood were collected and DNA was extracted,GSTM1,GSTT1 gene polymorphism were analyzed using multiple allele specific polymerase chain reaction (PCR) method. Results The genotype of GSTM1 deletion was 60.5%,the genotype of GSTT1 deletion was 5%,and the frequency of GSTM1 and GSTT1 deletion genotypes was 3.5%.The difference of genotype deletion frequency of GSTT1 in cord blood was statistically significant between the low birth weight and normal infants (P<0.05).The frequency of GSTT1 genotype was significantly different between normal and low birth weight in Uygur nationality (P<0.05).The distribution difference of Uygur normal birth weight and low birth weight infants in the different genotype frequency composition had statistical significance (P<0.05). Conclusion GSTT1 gene deletion in umbilical cord blood may increase the incidence of low birth weight,and also increase the Uygur neonates with low birth weight.The absence of GSTM1 genotype in cord blood may not affect the occurrence of low birth weight.There are differences in the distribution of different birth weight among the Uygur newborns with different birth weight.So we should understand the cause of the low birth weight,so as to improve the birth quality of the newborn.