HAPLOTYPE ANALYSIS IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

被引：0
作者：
POUND, SE
THOMAS, S
SNAREY, A
MACNICOL, AM
WATSON, ML
PIGNATELLI, PM
FRISCHAUF, AM
HARRIS, PC
WRIGHT, AF
机构：
[1] UNIV EDINBURGH,WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
[2] JOHN RADCLIFFE HOSP,INST MOLEC MED,MRC,MOLEC HAEMATOL UNIT,OXFORD OX3 9DU,ENGLAND
[3] IMPERIAL CANC RES FUND,MOLEC ANAL MAMMALIAN MUTAT,LONDON WC2A 3PX,ENGLAND
[4] ROYAL INFIRM,DEPT MED,EDINBURGH EH3 9YW,MIDLOTHIAN,SCOTLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 03期
基金：
英国惠康基金;
关键词：
D O I：
10.1136/jmg.32.3.208
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Haplotype analysis was performed in 35 autosomal dominant polycystic kidney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. The identification of recombinants close to the PKD1 gene on chromosome 16p indicates that PKD1 lies between CMM65 distally and 26-6 proximally. In addition, three unlinked (PKD2) families and two families with potential new mutation were identified.
引用
收藏
页码：208 / 212
页数：5
相关论文
共 31 条
  • [1] BEAR J C, 1989, American Journal of Human Genetics, V45, pA39
  • [2] AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE - NEW INFORMATION FOR GENETIC-COUNSELING
    BEAR, JC
    PARFREY, PS
    MORGAN, JM
    MARTIN, CJ
    CRAMER, BC
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (03): : 548 - 553
  • [3] A TAQI POLYMORPHISM IDENTIFIED BY 26-6 (D16S125) PROXIMAL TO THE LOCUS AFFECTING ADULT POLYCYSTIC KIDNEY-DISEASE (PKD1) ON CHROMOSOME-16
    BREUNING, MH
    SNIJDEWINT, FGM
    SMITS, JR
    DAUWERSE, JG
    SARIS, JJ
    VANOMMEN, GJB
    [J]. NUCLEIC ACIDS RESEARCH, 1990, 18 (10) : 3106 - 3106
  • [4] BREUNING MH, 1987, LANCET, V2, P1359
  • [5] MAP OF 16 POLYMORPHIC LOCI ON THE SHORT ARM OF CHROMOSOME-16 CLOSE TO THE POLYCYSTIC KIDNEY-DISEASE GENE (PKD1)
    BREUNING, MH
    SNIJDEWINT, FGM
    BRUNNER, H
    VERWEST, A
    IJDO, JW
    SARIS, JJ
    DAUWERSE, JG
    BLONDEN, L
    KEITH, T
    CALLEN, DF
    HYLAND, VJ
    XIAO, GH
    SCHERER, G
    HIGGS, DR
    HARRIS, P
    BACHNER, L
    REEDERS, ST
    GERMINO, G
    PEARSON, PL
    VANOMMEN, GJB
    [J]. JOURNAL OF MEDICAL GENETICS, 1990, 27 (10) : 603 - 613
  • [6] MAPPING THE SHORT ARM OF HUMAN-CHROMOSOME 16
    CALLEN, DF
    HYLAND, VJ
    BAKER, EG
    FRATINI, A
    GEDEON, AK
    MULLEY, JC
    FERNANDEZ, KEW
    BREUNING, MH
    SUTHERLAND, GR
    [J]. GENOMICS, 1989, 4 (03) : 348 - 354
  • [7] GENETIC AND CLINICAL-STUDIES IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE TYPE-1 (ADPKD1)
    COTO, E
    AGUADO, S
    ALVAREZ, J
    DIAZ, MJM
    LOPEZLARREA, C
    [J]. JOURNAL OF MEDICAL GENETICS, 1992, 29 (04) : 243 - 246
  • [8] DALGAARD O. Z., 1957, ACTA MED SCAND SUPPL, V158, P1
  • [9] THE GENE FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE LIES IN A 750-KB CPG-RICH REGION
    GERMINO, GG
    WEINSTATSASLOW, D
    HIMMELBAUER, H
    GILLESPIE, GAJ
    SOMLO, S
    WIRTH, B
    BARTON, N
    HARRIS, KL
    FRISCHAUF, AM
    REEDERS, ST
    [J]. GENOMICS, 1992, 13 (01) : 144 - 151
  • [10] GERMINO GG, 1990, AM J HUM GENET, V46, P925
1234