母体和胎儿的遗传因素均会导致糖尿病妊娠的巨大儿。

Both maternal and foetal genetic factors contribute to macrosomia of diabetic pregnancy.

作者信息

Gloria-Bottini F, Gerlini G, Lucarini N, Amante A, Lucarelli P, Borgiani P, Bottini E

机构信息

Chair of Human Development, 2nd University of Rome, School of Medicine, Italy.

出版信息

Hum Hered. 1994 Jan-Feb;44(1):24-30. doi: 10.1159/000154185.

DOI:10.1159/000154185

PMID:7909309

Abstract

The study of 230 diabetic mothers along with their newborn babies has shown that foetal macrosomia is associated with two specific genomic sites: phosphoglucomutase locus 1 (PGM1)-Rhesus blood group (Rh) linkage group (chromosome 1) and HindIII restriction fragment length polymorphism (RFLP) linked to insulin-like growth factor 1 (IGF1) (chromosome 12). In PGM(1)2-1 mothers carrying the E allele, there is a proportion of 8.7% of macrosomic newborns as compared with 39.6% in mothers with other genotypes. The relationship between the maternal PGM1-RhE genotype and neonatal macrosomia does not depend on the type of diabetes. The proportion of macrosomic infants is much lower among newborns carrying the IGF1HS allele of the HindIII RFLP linked to IGF1 (20%) than among IGF1F/IGF1HF newborns (55%).

摘要

对230位糖尿病母亲及其新生儿的研究表明，巨大胎儿与两个特定的基因组位点相关：磷酸葡萄糖变位酶基因座1（PGM1）-恒河猴血型（Rh）连锁群（第1号染色体）以及与胰岛素样生长因子1（IGF1）相关的HindIII限制性片段长度多态性（RFLP）（第12号染色体）。在携带E等位基因的PGM(1)2-1母亲中，巨大儿新生儿的比例为8.7%，而其他基因型母亲的这一比例为39.6%。母亲PGM1-RhE基因型与新生儿巨大儿之间的关系并不取决于糖尿病类型。与IGF1相关的HindIII RFLP的IGF1HS等位基因携带者新生儿中巨大儿的比例（20%）远低于IGF1F/IGF1HF新生儿（55%）。