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人和大鼠的胞质磷脂酶A2基因:染色体定位及多态性标记

Cytosolic phospholipase A2 gene in human and rat: chromosomal localization and polymorphic markers.

作者信息

Tay A, Simon J S, Squire J, Hamel K, Jacob H J, Skorecki K

机构信息

Membrane Biology Group, Hospital for Sick Children, Toronto, Canada.

出版信息

Genomics. 1995 Mar 1;26(1):138-41. doi: 10.1016/0888-7543(95)80093-2.

Abstract

We report the chromosomal localization and a simple sequence repeat (SSR) in the cytosolic phospholipase A2 (cPLA2) gene in both human and rat. A (CA)18 repeat in the promoter of the rat gene was determined to exhibit length polymorphism when analyzed using the polymerase chain reaction (PCR) in 19 different inbred rat strains. Genotyping for this marker in 234 F2 progeny of a SHR x BN intercross mapped the gene to rat chromosome 13. Using a PCR strategy, a fragment of the promoter for the human gene was isolated, and a (CA)18 repeat was identified. Since this marker displayed a low heterozygosity index, we also identified a mononucleotide repeat in the promoter for cPLA2 that displayed a polymorphism information content value of 0.76. The human gene was mapped using fluorescence in situ hybridization (FISH) to chromosome 1q25. Of interest, the gene encoding the enzyme prostaglandin-endoperoxide synthase 2 (cyclooxygenase-2), which acts on the arachidonic acid product of cPLA2, was previously localized to this same chromosomal region, raising the possibility of coordinate regulation. Identification of intragenic markers may facilitate studies of polymorphic variants of these genes as candidates for disorders in which perturbations of the eicosanoid cascade may play a role.

摘要

我们报告了人和大鼠胞质型磷脂酶A2(cPLA2)基因的染色体定位及一个简单序列重复(SSR)。用聚合酶链反应(PCR)分析19种不同近交系大鼠品系时,发现大鼠基因启动子中的(CA)18重复序列呈现长度多态性。在SHR×BN杂交的234个F2子代中对该标记进行基因分型,将该基因定位于大鼠13号染色体。采用PCR策略,分离出人类基因启动子的一个片段,并鉴定出一个(CA)18重复序列。由于该标记的杂合度指数较低,我们还在cPLA2启动子中鉴定出一个单核苷酸重复序列,其多态性信息含量值为0.76。利用荧光原位杂交(FISH)将人类基因定位于1号染色体q25区。有趣的是,编码前列腺素内过氧化物合酶2(环氧化酶-2)的基因,其作用于cPLA2的花生四烯酸产物,先前也定位于同一染色体区域,这增加了协同调控的可能性。鉴定基因内标记可能有助于研究这些基因的多态性变体,作为类花生酸级联反应紊乱可能起作用的疾病的候选基因。

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