SCREENING FOR MUTATIONS AT CODON-717 OF THE AMYLOID PRECURSOR PROTEIN GENE IN ALZHEIMERS-DISEASE

被引:0
|
作者
DAI, XY
HATTORI, M
HIRASAWA, H
ISSE, K
UEKI, A
NANKO, S
机构
[1] TOKYO METROPOLITAN GERIATR HOSP & INST GERONTOL,DEPT PSYCHIAT,ITABASHI KU,TOKYO 173,JAPAN
[2] TOKYO METROPOLITAN TAMA GERIATR HOSP,DEPT PSYCHIAT,TOKYO,JAPAN
[3] JICHI MED SCH,OMIYA MED CTR,DEPT NEUROL,OMIYA,SAITAMA,JAPAN
关键词
EARLY ONSET; FAMILIAL; LATE ONSET; SPORADIC;
D O I
10.1111/j.1440-1819.1995.tb02224.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Three kinds of missense mutation at codon 717 of amyloid precursor protein (APP) gene (Val-->Ile; Val-->Gly; Val-->Phe) were screened in 114 patients with familial and sporadic Alzheimer's disease (AD), using a rapid testing method for each Val-->Gly and Val-->Phe mutation and Goate's method for Val-->Ile mutation based on the polymerase chain reaction. Mutations were not found in the subjects, confirming earlier suggestions that these three mutations at codon 717 of APP gene account for only a small proportion of cases of not only familial AD but also sporadic AD.
引用
收藏
页码:175 / 178
页数:4
相关论文
共 50 条
  • [1] A MUTATION IN CODON-717 OF THE AMYLOID PRECURSOR PROTEIN GENE IN AN AUSTRALIAN FAMILY WITH ALZHEIMERS-DISEASE
    BROOKS, WS
    MARTINS, RN
    DEVOECHT, J
    NICHOLSON, GA
    SCHOFIELD, PR
    KWOK, JBJ
    FISHER, C
    YEUNG, LU
    Van Broeckhoven, C
    [J]. NEUROSCIENCE LETTERS, 1995, 199 (03) : 183 - 186
  • [2] EARLY-ONSET ALZHEIMERS-DISEASE CAUSED BY MUTATIONS AT CODON-717 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE
    CHARTIERHARLIN, MC
    CRAWFORD, F
    HOULDEN, H
    WARREN, A
    HUGHES, D
    FIDANI, L
    GOATE, A
    ROSSOR, M
    ROQUES, P
    HARDY, J
    MULLAN, M
    [J]. NATURE, 1991, 353 (6347) : 844 - 846
  • [3] CLINICAL COMPARISON OF ALZHEIMERS-DISEASE IN PEDIGREES WITH THE CODON-717 VAL-]ILE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE
    MULLAN, M
    TSUJI, S
    MIKI, T
    KATSUYA, T
    NARUSE, S
    KANEKO, K
    SHIMIZU, T
    KOJIMA, T
    NAKANO, I
    OGIHARA, T
    MIYATAKE, T
    OVENSTONE, I
    CRAWFORD, F
    GOATE, A
    HARDY, J
    ROQUES, P
    ROBERTS, G
    LUTHERT, P
    LANTOS, P
    CLARK, C
    GASKELL, P
    CRAIN, B
    ROSES, A
    [J]. NEUROBIOLOGY OF AGING, 1993, 14 (05) : 407 - 419
  • [4] PATHOLOGICAL-CHANGES IN THE BRAIN OF A PATIENT WITH FAMILIAL ALZHEIMERS-DISEASE HAVING A MISSENSE MUTATION AT CODON-717 IN THE AMYLOID PRECURSOR PROTEIN GENE
    MANN, DMA
    JONES, D
    SNOWDEN, JS
    NEARY, D
    HARDY, J
    [J]. NEUROSCIENCE LETTERS, 1992, 137 (02) : 225 - 228
  • [5] SCREENING ALZHEIMERS-DISEASE PATIENTS FOR MUTATIONS IN THE AMYLOID PRECURSOR PROTEIN GENE
    JONES, CT
    MORRIS, S
    MOFFOOT, A
    STCLAIR, D
    BROCK, DJH
    [J]. MOLECULAR AND CELLULAR PROBES, 1993, 7 (02) : 161 - 165
  • [6] BETA-A4 PROTEIN DEPOSITION IN FAMILIAL ALZHEIMERS-DISEASE WITH THE MUTATION IN CODON 717 OF THE BETA-A4 AMYLOID PRECURSOR PROTEIN GENE AND SPORADIC ALZHEIMERS-DISEASE
    CAIRNS, NJ
    CHADWICK, A
    LANTOS, PL
    LEVY, R
    ROSSOR, MN
    [J]. NEUROSCIENCE LETTERS, 1993, 149 (02) : 137 - 140
  • [7] NO EVIDENCE FOR A POINT MUTATION AT CODON-713 AND CODON-717 OF AMYLOID PRECURSOR PROTEIN GENE IN JAPANESE SCHIZOPHRENICS
    FUKUDA, R
    HATTORI, M
    SASAKI, T
    KAZAMATSURI, H
    KUWATA, S
    SHIBATA, Y
    NANKO, S
    [J]. JAPANESE JOURNAL OF HUMAN GENETICS, 1993, 38 (04): : 407 - 411
  • [8] ALZHEIMERS-DISEASE FAMILIES WITH AMYLOID PRECURSOR PROTEIN MUTATIONS
    ROSSOR, MN
    NEWMAN, S
    FRACKOWIAK, RSJ
    LANTOS, P
    KENNEDY, AM
    [J]. ALZHEIMERS DISEASE: AMYLOID PRECUSOR PROTEINS, SIGNAL TRANSDUCTION, AND NEURONAL TRANSPLANTATION, 1993, 695 : 198 - 202
  • [9] SCREENING FOR MUTATIONS OF THE AMYLOID PRECURSOR PROTEIN IN EARLY-ONSET ALZHEIMERS-DISEASE
    BOCH, AL
    GOUIDERKHOUJA, N
    STEVANIN, G
    KHATI, C
    MICHON, A
    PILLON, B
    DUBOIS, B
    AGID, Y
    BRICE, A
    CAMPION, D
    BABRON, MC
    MARTINEZ, M
    CLERGETDARPOUX, F
    BELLIS, M
    MALLET, J
    HANNEQUIN, D
    PASQUIER, F
    LEDOZE, F
    PUEL, M
    TOUCHON, J
    DESI, M
    ZIMMERMANN, MA
    GOAS, JY
    VERCELETTO, M
    THOMASANTERION, C
    PELLAT, J
    LEMAITRE, MH
    ALICHERIF, A
    ORGOGOZO, JM
    [J]. REVUE NEUROLOGIQUE, 1993, 149 (10) : 528 - 531
  • [10] SCREENING OF AMYLOID PRECURSOR PROTEIN GENE MUTATION (APP717VAL-]ILE) IN SWEDISH FAMILIES WITH ALZHEIMERS-DISEASE
    ALMQVIST, E
    LAKE, S
    AXELMAN, K
    JOHANSSON, K
    WINBLAD, B
    [J]. JOURNAL OF NEURAL TRANSMISSION-PARKINSONS DISEASE AND DEMENTIA SECTION, 1993, 6 (02) : 151 - 156