Polymorphism and mapping of the IGF1 gene, and absence of association with stature among African Pygmies.
Polymorphism and mapping of the IGF1 gene, and absence of association with stature among African Pygmies.
复制标题
IGF1 基因的多态性和定位，以及与非洲俾格米人身高的相关性缺失。
DOI：
10.1007/bf00206760
复制
发表时间：
1990
期刊：
影响因子：
5.3
通讯作者：
Sartorelli,V
中科院分区：
文献类型：
--
作者：
Bowcock,A;Sartorelli,V
分离出检测胰岛素样生长因子 (IGF1) 基因限制性片段长度多态性 (RFLP) 的探针，并确定不同人群中的等位基因频率。尽管有人提出 IGF1 基因缺陷可能导致俾格米人身材矮小，但在俾格米人和非俾格米黑人非洲人中，IGF1 等位基因的分布没有检测到差异。 C.A.R 中 IGF1 基因型与身高不存在相关性也支持了这一点。俾格米人。聚合酶链式反应 (PCR) 和直接测序未能证明俾格米人 IGF1 起始位点上游区域的变化。连锁分析表明IGF1与染色体12q22-24.1上的苯丙氨酸羟化酶基因紧密连锁。
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.