LINKAGE OF AN IMPORTANT GENE LOCUS FOR TUBEROUS SCLEROSIS TO A CHROMOSOME 16 MARKER FOR POLYCYSTIC KIDNEY-DISEASE

被引：259

作者：

KANDT, RS

HAINES, JL

SMITH, M

NORTHRUP, H

GARDNER, RJM

SHORT, MP

DUMARS, K

ROACH, ES

STEINGOLD, S

WALL, S

BLANTON, SH

FLODMAN, P

KWIATKOWSKI, DJ

JEWELL, A

WEBER, JL

ROSES, AD

PERICAKVANCE, MA

机构：

[1] MASSACHUSETTS GEN HOSP,MOLEC NEUROGENET LAB,CHARLESTON,MA 02129

[2] UNIV CALIF IRVINE,DEPT PEDIAT,IRVINE,CA 92717

[3] UNIV TEXAS,SCH MED,DEPT PEDIAT,DIV MED GENET,HOUSTON,TX 77030

[4] UNIV OTAGO,DEPT PEDIAT & CHILD HLTH,DUNEDIN,NEW ZEALAND

[5] UNIV TEXAS,HLTH SCI CTR,SW MED SCH,DIV PEDIAT NEUROL,DALLAS,TX 75235

[6] UNIV VIRGINIA,DEPT PEDIAT,CHARLOTTESVILLE,VA 22908

[7] BRIGHAM & WOMENS HOSP,DIV EXPTL MED & HEMATOL ONCOL,BOSTON,MA 02115

[8] MARSHFIELD MED RES FDN,MARSHFIELD,WI 54449

来源：

NATURE GENETICS | 1992年 / 2卷 / 01期

关键词：

D O I：

10.1038/ng0992-37

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of unknown aetiology that affects numerous body systems including skin, brain and kidneys. Some TSC has been linked to chromosome 9, additional TSC genes on chromosomes 11 and 12 have been proposed, but the majority of TSC families remain unlinked. Using TSC families in which data had excluded linkage to chromosome 9, we failed to detect linkage with loci on chromosomes 11, 12 and others. One marker examined was D16S283, the closest locus on the proximal side of the polycystic kidney disease type 1 (PKD1) gene. Linkage between TSC and D16S283 demonstrated a lod score of 9.50 at THETA = 0.02 with one family independently presenting a lod score of 4.44 at THETA = 0.05. These data reveal an important TSC locus near the region of PKD1 on chromosome 16p13.

引用

页码：37 / 41

页数：5

共 43 条

[1] CLONING OF THE ESSENTIAL MYOTONIC-DYSTROPHY REGION AND MAPPING OF THE PUTATIVE DEFECT
ASLANIDIS, C
JANSEN, G
AMEMIYA, C
SHUTLER, G
MAHADEVAN, M
TSILFIDIS, C
CHEN, C
ALLEMAN, J
WORMSKAMP, NGM
VOOIJS, M
BUXTON, J
JOHNSON, K
SMEETS, HJM
LENNON, GG
CARRANO, AV
KORNELUK, RG
WIERINGA, B
DEJONG, PJ
[J]. NATURE, 1992, 355 (6360) : 548 - 551
[2] BERNSTEIN J, 1974, Birth Defects Original Article Series, V10, P35
[3] BURLEY MW, IN PRESS ANN HUM GEN
[4] DETECTION OF AN UNSTABLE FRAGMENT OF DNA SPECIFIC TO INDIVIDUALS WITH MYOTONIC-DYSTROPHY
BUXTON, J
SHELBOURNE, P
DAVIES, J
JONES, C
VANTONGEREN, T
ASLANIDIS, C
DEJONG, P
JANSEN, G
ANVRET, M
RILEY, B
WILLIAMSON, R
JOHNSON, K
[J]. NATURE, 1992, 355 (6360) : 547 - 548
[5] REPORT OF THE COMMITTEE ON METHODS OF LINKAGE ANALYSIS AND REPORTING
CONNEALLY, PM
EDWARDS, JH
KIDD, KK
LALOUEL, JM
MORTON, NE
OTT, J
WHITE, R
[J]. CYTOGENETICS AND CELL GENETICS, 1985, 40 (1-4): : 356 - 359
[6] LINKAGE OF THE TUBEROUS SCLEROSIS LOCUS TO A DNA POLYMORPHISM DETECTED BY V-ABL
CONNOR, JM
PIRRIT, LA
YATES, JRW
FRYER, AE
FERGUSONSMITH, MA
[J]. JOURNAL OF MEDICAL GENETICS, 1987, 24 (09) : 544 - 546
[7] DWORNICZAK B, 1991, NUCLEIC ACIDS RES, V19, P1958
[8] A 3RD GENE LOCUS FOR TUBEROUS SCLEROSIS IS CLOSELY LINKED TO THE PHENYLALANINE-HYDROXYLASE GENE LOCUS
FAHSOLD, R
ROTT, HD
LORENZ, P
[J]. HUMAN GENETICS, 1991, 88 (01) : 85 - 90
[9] FRYER AE, 1987, LANCET, V1, P659
[10] 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

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