GENETIC-EVIDENCE FOR A NOVEL FAMILIAL ALZHEIMERS-DISEASE LOCUS ON CHROMOSOME-14

被引：404

作者：

STGEORGEHYSLOP, P

HAINES, J

ROGAEV, E

MORTILLA, M

VAULA, G

PERICAKVANCE, M

FONCIN, JF

MONTESI, M

BRUNI, A

SORBI, S

RAINERO, I

PINESSI, L

POLLEN, D

POLINSKY, R

NEE, L

KENNEDY, J

MACCIARDI, F

ROGAEVA, E

LIANG, Y

ALEXANDROVA, N

LUKIW, W

SCHLUMPF, K

TANZI, R

TSUDA, T

FARRER, L

CANTU, JM

DUARA, R

AMADUCCI, L

BERGAMINI, L

GUSELLA, J

ROSES, A

MCLACHLAN, DC

机构：

[1] UNIV TORONTO, CTR RES NEURODEGENERAT DIS, DEPT PHYSIOL, TORONTO M5S 1A8, ONTARIO, CANADA

[2] MASSACHUSETTS GEN HOSP, MOLEC NEUROGENET LAB, BOSTON, MA 02129 USA

[3] ACAD MED SCI, NATL RES CTR MENT HLTH, MOLEC BRAIN GENET LAB, MOSCOW 113152, USSR

[4] UNIV FLORENCE, DEPT NEUROL, I-50121 FLORENCE, ITALY

[5] UNIV TURIN, DEPT NEUROL, I-10126 TURIN, ITALY

[6] DUKE UNIV, MED CTR, BRYAN ALZHEIMERS DIS RES CTR, DURHAM, NC 27710 USA

[7] UNIV MILANO, SCH MED, DEPT NEUROSCI, I-20127 MILAN, ITALY

[8] TOHOKU UNIV, SCH MED, DEPT NEUROL, SENDAI, MIYAGI 980, JAPAN

[9] BOSTON UNIV, SCH MED, NEUROGENET LAB, BOSTON, MA 02118 USA

[10] IST MEXICANO SEGURO SOCIAL, DEPT GENET, GUADALAJARA, MEXICO

[11] ECOLE PRAT HAUTES ETUD, NEUROHISTOL LAB, F-75651 PARIS 13, FRANCE

[12] CNR, SERV NEUROL, USSL 17, I-88046 LAMEZIA TERME, ITALY

[13] UNIV MASSACHUSETTS, MED CTR, DEPT NEUROL, WORCESTER, MA 01655 USA

[14] SANDOZ PHARMACEUT CORP, SANDOZ RES INST, E HANOVER, NJ 07936 USA

[15] NINCDS, CLIN NEUROPHARMACOL SECT, BETHESDA, MD 20892 USA

[16] UNIV TORONTO, CLARKE INST PSYCHIAT, DEPT PSYCHIAT, NEUROGENET SECT, TORONTO M5T 1R8, ONTARIO, CANADA

[17] MT SINAI MED CTR, WEIN CTR, MIAMI BEACH, FL 33140 USA

来源：

NATURE GENETICS | 1992年 / 2卷 / 04期

关键词：

D O I：

10.1038/ng1292-330

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Familial Alzheimer's disease (FAD) has been shown to be genetically heterogeneous, with a very small proportion of early onset pedigrees being associated with mutations in the amyloid precursor protein (APP) gene on chromosome 21, and some late onset pedigrees showing associations with markers on chromosome 19. We now provide evidence for a major early onset FAD locus on the long arm of chromosome 14 near the markers D14S43 and D14S53 (multipoint lod score z = 23.4) and suggest that the inheritance of FAD may be more complex than had initially been suspected.

引用

页码：330 / 334

页数：5

共 33 条

[1] BEYREUTHER K, 1991, ANN NY ACAD SCI, V640, P129
[2] CARTER DA, 1992, NATURE GNET, V2
[3] REPORT OF THE COMMITTEE-ON-THE-GENETIC-CONSTITUTION-OF-CHROMOSOME-14
COX, DW
NAKAMURA, Y
GEDDEDAHL, T
[J]. CYTOGENETICS AND CELL GENETICS, 1990, 55 (1-4): : 183 - 188
[4] GADJUSEK DC, 1991, BRAIN RES BRAIN RES, V16, P83
[5] Glenner G G, 1989, Prog Clin Biol Res, V317, P857
[6] SEGREGATION OF A MISSENSE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE WITH FAMILIAL ALZHEIMERS-DISEASE
GOATE, A
CHARTIERHARLIN, MC
MULLAN, M
BROWN, J
CRAWFORD, F
FIDANI, L
GIUFFRA, L
HAYNES, A
IRVING, N
JAMES, L
MANT, R
NEWTON, P
ROOKE, K
ROQUES, P
TALBOT, C
PERICAKVANCE, M
ROSES, A
WILLIAMSON, R
ROSSOR, M
OWEN, M
HARDY, J
[J]. NATURE, 1991, 349 (6311) : 704 - 706
[7] GOATE AM, 1989, LANCET, V1, P352
[8] HAINES JL, 1991, AM J HUM GENET, V48, P1021
[9] HARDY J, 1992, AM J HUM GENET, V50, P648
[10] PRESENILE-DEMENTIA AND CEREBRAL-HEMORRHAGE LINKED TO A MUTATION AT CODON-692 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE
HENDRIKS, L
VANDUIJN, CM
CRAS, P
CRUTS, M
VANHUL, W
VANHARSKAMP, F
WARREN, A
MCINNIS, MG
ANTONARAKIS, SE
MARTIN, JJ
HOFMAN, A
VAN BROECKHOVEN, C
[J]. NATURE GENETICS, 1992, 1 (03) : 218 - 221

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