Fradin D, Boileau P, Lepercq J, Bougnères P
Department of Pediatric Endocrinology and INSERM U561, Hôpital Saint Vincent de Paul, Paris, France.
J Endocrinol Invest. 2006;29(1 Suppl):11-5.
Mendelian genetics showed that a few mutated genes, or errors in parental imprinting, can lead to major phenotypic changes (diseases) in pre-natal growth. Mendelian genetics, however, do not explain the individual subtle variability of size at birth within the normal range. Fetal growth is a complex multifactorial, multigenic trait made of various sub-traits, such as body mass, fat and muscle, brain mass, head circumference, skeletal growth of the spine and limbs. It is likely that multiple genetic factors and genomic variants are responsible for the variations of these sub-traits. A study has been launched to investigate the genetics of the variation of human birth weight, with the ultimate aim of identifying genomic variations that are within or near certain genes and are associated with variations of human height and weight at birth.
孟德尔遗传学表明，少数突变基因或亲本印记错误可导致产前生长出现重大表型变化（疾病）。然而，孟德尔遗传学无法解释正常范围内出生时个体大小的细微差异。胎儿生长是一个复杂的多因素、多基因性状，由各种子性状组成，如体重、脂肪和肌肉、脑质量、头围、脊柱和四肢的骨骼生长。很可能多种遗传因素和基因组变异导致了这些子性状的变化。一项研究已启动，旨在调查人类出生体重变异的遗传学，最终目标是识别某些基因内部或附近的基因组变异，这些变异与人类出生时的身高和体重变化相关。
