Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.
Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.
复制标题
拉丁美洲阿尔茨海默病的系统遗传学研究：哥伦比亚淀粉样β前体蛋白和早老素基因的突变频率。
DOI：
--
复制
发表时间：
2001
期刊：
影响因子：
--
通讯作者：
M. Jacquier
中科院分区：
文献类型：
--
作者：
D. Arango;M. Cruts;Orlando Torres;H. Backhovens;Martha Serrano;Elsa Villareal;Patricia Monta�es;Diana Matallana;Carlos Cano;C. van Broeckhoven;M. Jacquier
早老素1 （PSEN1）、早老素2 （PSEN2）和β淀粉样蛋白前体蛋白（APP）基因的几乎所有突变都会导致早发性阿尔茨海默病（EOAD，发病年龄在65岁或65岁之前）。为了评估这些基因在一系列哥伦比亚AD病例中的遗传贡献，我们对11例常染色体显性AD患者、23例家族性AD患者和42例散发性AD患者（34%发病年龄<或= 65岁）进行了系统突变分析。未发现APP错义突变。在三例常染色体显性病例（27.2%）中，鉴定出两种不同的PSEN1错义突变。两种PSEN1突变都是发生在早发性常染色体AD病例中的错义突变：一例为I143T突变（发病年龄为30岁），另外两例为E280A突变（发病年龄为35岁和42岁）。此外，一种新的PSEN1 V94M突变存在于一名无已知家族史的早发性AD病例中（发病年龄53岁），而在53名对照组中不存在。5例AD患者存在E318G多态性，对照组不存在。在PSEN2中，检测到两种不同的沉默突变，包括一种在其他地方未报道的突变（P129）。大多数哥伦比亚AD病例，主要是迟发性，PSEN和APP突变呈阴性。
Nearly all mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid beta precursor protein (APP) genes lead to early-onset Alzheimer disease (EOAD, onset age at or before 65 years). In order to assess the genetic contribution of these genes in a series of Colombian AD cases, we performed a systematic mutation analysis in 11 autosomal dominant, 23 familial, and 42 sporadic AD patients (34% with age of onset < or = 65 years). No APP missense mutations were identified. In three autosomal dominant cases (27.2%), two different PSEN1 missense mutations were identified. Both PSEN1 mutations are missense mutations that occurred in early-onset autosomal AD cases: an I143T mutation in one case (onset age 30 years) and an E280A mutation in two other cases (onset ages 35 and 42 years). In addition, a novel PSEN1 V94M mutation was present in one early-onset AD case without known family history (onset age 53 years) and absent in 53 controls. The E318G polymorphism was present in five AD cases and absent in controls. In PSEN2, two different silent mutations were detected, including one not reported elsewhere (P129). The majority of the Colombian AD cases, predominantly late-onset, were negative for PSEN and APP mutations.
影响因子：
9.8
作者：
K. Kamino;H. T. Orr;H. Payami;Ellen M. Wijsman;M. E. Alonso;Stefan M. Pulst;L. Anderson;Sheldon O'dahl;E. Nemens;June A. White;A. Sadovnick;Melvyn J. Ball;J. Kaye;Andrew Warren;Melvin G. McInnis;S. Antonarakis;Julie R. Korenberg;V. Sharma;W. Kukull;Eric Larson;Leonard L. Heston;George M. Martin;Thomas D. Bird;G. D. Schellenberg
通讯作者：
K. Kamino;H. T. Orr;H. Payami;Ellen M. Wijsman;M. E. Alonso;Stefan M. Pulst;L. Anderson;Sheldon O'dahl;E. Nemens;June A. White;A. Sadovnick;Melvyn J. Ball;J. Kaye;Andrew Warren;Melvin G. McInnis;S. Antonarakis;Julie R. Korenberg;V. Sharma;W. Kukull;Eric Larson;Leonard L. Heston;George M. Martin;Thomas D. Bird;G. D. Schellenberg
DOI：
10.1073/pnas.90.17.8098
发表时间：
1993-09-01
影响因子：
11.1
作者：
STRITTMATTER, WJ;WEISGRABER, KH;ROSES, AD
通讯作者：
ROSES, AD