F. Gloriabottini et al., BOTH MATERNAL AND FETAL GENETIC-FACTORS CONTRIBUTE TO MACROSOMIA OF DIABETIC PREGNANCY, Human heredity, 44(1), 1994, pp. 24-30
The study of 230 diabetic mothers along with their newborn babies has
shown that foetal macrosomia is associated with two specific genomic s
ites: phosphoglucomutase locus 1 (PGM(1))-Rhesus blood group (Rh) link
age group (chromosome 1) and HindIII restriction fragment length polym
orphism (RFLP) linked to insulin-like growth factor 1 (IGF1) (chromoso
me 12). In PGM(1)2-1 mothers carrying the E allele, there is a proport
ion of 8.7% of macrosomic newborns as compared with 39.6% in mothers w
ith other genotypes. The relationship between the maternal PGM(1)-RhE
genotype and neonatal macrosomia does not depend on the type of diabet
es. The proportion of macrosomic infants is much lower among newborns
carrying the IGF1H(S) allele of the HindIII RFLP linked to IGF1 (20%)
than among IGF1(F)/IGF1H(F) newborns (55%).