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Benjamin Tycko L. Feng L. Nguyen Aren Francis Allison Hays Wai-Yee Chung Ming-Xin Tang Yaakov Stern Amrik Sahota Hugh Hendrie R. Mayeux 《Human genetics》1996,98(4):430-436
Apolipoprotein-J/clusterin (APOJ/CLI) shares many biological properties with apolipoprotein-Ε (APOE) including, but not limited to, avid binding with β-amyloid peptide. Thus, APOJ/CLI warrants scrutiny as a candidate Alzheimer’s disease (AD) susceptibility gene. We identified seven nucleotide sequence polymorphisms
in APOJ/ CLI, two of which, in exon 7, alter the predicted amino acid sequence. The JVIIB variant is an asparagine-to-histidine substitution,
which deletes a glycosylation signal at amino acid 317; the JVIIC variant is an aspartate-to-asparagine substitution, which
forms a new glycosylation signal at position 328. Both of these coding variants, as well as two neutral polymorphisms in exon
2, were more frequent in African-Americans than Hispanics and were rare in Caucasians. However, no individual coding or noncoding
variant was consistently associated with AD. At the population level, APOJ/CLI polymorphisms are frequent among persons of African descent, but probably do not alter susceptibility to AD.
Received: 14 February 1996 / Revised: 15 April 1996 相似文献