Bowcock A, Sartorelli V
Department of Genetics, Stanford University, CA 94305.
Hum Genet. 1990 Aug;85(3):349-54. doi: 10.1007/BF00206760.
Probes detecting restriction fragment length polymorphisms (RFLPs) in the insulinlike growth factor (IGF1) gene were isolated and allele frequencies in different human populations determined. No difference was detected between the distribution of IGF1 alleles in Pygmies versus non-Pygmy black Africans, despite the proposal that a defect in the IGF1 gene might be responsible for Pygmy short stature. This was supported by the absence of a correlation of IGF1 genotype with height in the C.A.R. Pygmies. Polymerase chain reaction (PCR) and direct sequencing failed to demonstrate an alteration in the region upstream the IGF1 start site in Pygmies. Linkage analysis demonstrated that IGF1 is tightly linked to the phenylalanine hydroxylase gene on chromosome 12q22-24.1.
分离出了用于检测胰岛素样生长因子（IGF1）基因中限制性片段长度多态性（RFLP）的探针，并确定了不同人群中的等位基因频率。尽管有人提出IGF1基因缺陷可能是俾格米人身材矮小的原因，但在俾格米人与非俾格米黑人非洲人中，IGF1等位基因的分布并未检测到差异。中非共和国俾格米人中IGF1基因型与身高之间缺乏相关性，这支持了上述结论。聚合酶链反应（PCR）和直接测序未能证明俾格米人IGF1起始位点上游区域存在改变。连锁分析表明，IGF1与12q22 - 24.1染色体上的苯丙氨酸羟化酶基因紧密连锁。
