THE STRUCTURE OF THE PRESENILIN-1 (S182) GENE AND IDENTIFICATION OF 6 NOVEL MUTATIONS IN EARLY-ONSET AD FAMILIES

被引：385

作者：

CLARK, RF

HUTTON, M

FULDNER, RA

FROELICH, S

KARRAN, E

TALBOT, C

CROOK, R

LENDON, C

PRIHAR, G

HE, C

KORENBLAT, K

MARTINEZ, A

WRAGG, M

BUSFIELD, F

BEHRENS, MI

MYERS, A

NORTON, J

MORRIS, J

MEHTA, N

PEARSON, C

LINCOLN, S

BAKER, M

DUFF, K

ZEHR, C

PEREZTUR, J

HOULDEN, H

RUIZ, A

OSSA, J

LOPERA, F

ARCOS, M

MADRIGAL, L

COLLINGE, J

HUMPHREYS, C

ASHWORTH, A

SARNER, S

FOX, N

HARVEY, R

KENNEDY, A

ROQUES, P

CLINE, RT

PHILLIPS, CA

VENTER, JC

FORSELL, L

AXELMAN, K

LILIUS, L

JOHNSTON, J

COWBURN, R

VIITANEN, M

WINBLAD, B

KOSIK, K

机构：

[1] UNIV S FLORIDA,DEPT PSYCHIAT,SUNCOAST ALZHEIMERS DIS LAB,TAMPA,FL 33613

[2] UNIV S FLORIDA,DEPT PHARMACOL,SUNCOAST ALZHEIMERS DIS LAB,TAMPA,FL 33613

[3] UNIV S FLORIDA,DEPT BIOCHEM,SUNCOAST ALZHEIMERS DIS LAB,TAMPA,FL 33613

[4] UNIV S FLORIDA,DEPT NEUROL,SUNCOAST ALZHEIMERS DIS LAB,TAMPA,FL 33613

[5] WASHINGTON UNIV,SCH MED,DEPT PSYCHIAT,ST LOUIS,MO 63110

[6] WASHINGTON UNIV,SCH MED,DEPT NEUROL,ST LOUIS,MO 63110

[7] WASHINGTON UNIV,SCH MED,DEPT GENET,ST LOUIS,MO 63110

[8] TIGR,GAITHERSBURG,MD 20878

[9] KAROLINSKA INST,HUDDINGE,SWEDEN

[10] SMITHKLINE BEECHAM,DEPT MOLEC NEUROPATHOL,HARLOW,ESSEX,ENGLAND

[11] UNIV ANTIOQUIA,DEPT BIOCHEM,MEDELLIN,COLOMBIA

[12] UNIV ANTIOQUIA,DEPT NEUROL,MEDELLIN,COLOMBIA

[13] UNIV ANTIOQUIA,DEPT MED,MEDELLIN,COLOMBIA

[14] UNIV LONDON IMPERIAL COLL SCI TECHNOL & MED,DEPT BIOCHEM,LONDON W2 1PG,ENGLAND

[15] UNIV LONDON IMPERIAL COLL SCI TECHNOL & MED,DEPT NEUROL,LONDON W2 1PG,ENGLAND

[16] NATL HOSP NEUROL & NEUROSURG,LONDON WC1,ENGLAND

[17] BRIGHAM & WOMENS HOSP,DEPT NEUROL,BOSTON,MA 02113

[18] UNIV HELSINKI,DEPT PATHOL,HELSINKI,FINLAND

[19] OULU UNIV HOSP,DEPT CLIN GENET,OULU,FINLAND

[20] YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT PATHOL,BRONX,NY 10461

[21] UNIV MANCHESTER,DEPT PATHOL SCI,MANCHESTER,LANCS,ENGLAND

[22] UNIV MANCHESTER,DEPT NEUROL,MANCHESTER,LANCS,ENGLAND

[23] INST PSYCHIAT,DEPT NEUROPATHOL,LONDON SE5,ENGLAND

来源：

NATURE GENETICS | 1995年 / 11卷 / 02期

关键词：

D O I：

10.1038/ng1095-219

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genetic linkage studies place a gene causing early onset familial Alzheimer’s disease (FAD) on chromosome 14q24.3 (refs 1–4). Five mutations within the S182 (Presenilin 1: PS–1) gene, which maps to this region, have recently been reported in several early onset FAD kindreds5. We have localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM26 (Presenilin 2: PS-2) gene. © 1995 Nature Publishing Group.

引用

页码：219 / 222

页数：4

共 22 条

[1] A MODEL FOR HIGH-THROUGHPUT AUTOMATED DNA-SEQUENCING AND ANALYSIS CORE FACILITIES [J].