LINKAGE OF TYPICAL PSEUDOACHONDROPLASIA TO CHROMOSOME-19

被引：50

作者：

HECHT, JT

FRANCOMANO, CA

BRIGGS, MD

DEERE, M

CONNER, B

HORTON, WA

WARMAN, M

COHN, DH

BLANTON, SH

机构：

[1] JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, BALTIMORE, MD 21205 USA

[2] CEDARS SINAI MED CTR, STEVEN SPIELBERG PEDIAT RES CTR, AHMANSON DEPT PEDIAT, LOS ANGELES, CA 90048 USA

[3] UNIV CALIF LOS ANGELES, SCH MED, DEPT PEDIAT, LOS ANGELES, CA 90048 USA

[4] HARVARD UNIV, SCH MED, DEPT ANAT & CELL BIOL, BOSTON, MA 02115 USA

[5] UNIV VIRGINIA, DEPT PEDIAT, CHARLOTTESVILLE, VA 22908 USA

来源：

GENOMICS | 1993年 / 18卷 / 03期

关键词：

D O I：

10.1016/S0888-7543(05)80370-2

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset osteoarthritis. Previous linkage studies have excluded linkage to cartilage and noncartilagenous extracellular matrix candidate genes. Here, we report mapping the pseudoachondroplasia gene to chromosome 19. Maximum lod scores of 4.70, 4.15, and 4.86 at θ - 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/Dl9S215)-D19S222-D19S49. © 1993 Academic Press, Inc.

引用

页码：661 / 666

页数：6

共 24 条

[1] ADAMS DE, 1988, CRIME LAB DIGEST, V15, P106
[2] GENETIC-LINKAGE OF MILD PSEUDOACHONDROPLASIA (PSACH) TO MARKERS IN THE PERICENTROMERIC REGION OF CHROMOSOME-19
BRIGGS, MD
RASMUSSEN, IM
WEBER, JL
YUEN, J
REINKER, K
GARBER, AP
RIMOIN, DL
COHN, DH
[J]. GENOMICS, 1993, 18 (03) : 656 - 660
[3] CARTER WA, 1992, AM J HUM GENET, V51, P841
[4] PSEUDOACHONDROPLASTIC DWARFISM - ROUGH-SURFACED ENDOPLASMIC-RETICULUM STORAGE DISORDER
COOPER, RR
PONSETI, IV
MAYNARD, JA
[J]. JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 1973, A 55 (03) : 475 - 484
[5] COTTINGHAM RW, 1993, AM J HUM GENET, V53, P252
[6] ELLARD JT, 1989, TEXAS SOC ELECTRON M, V20, P29
[7] FINKELSTEIN JE, 1991, AM J HUM GENET, V48, P97
[8] Green P., 1990, DOCUMENTATION CRI MA
[9] GONADAL MOSAICISM IN PSEUDOACHONDROPLASIA
HALL, JG
DORST, JP
ROTTA, J
MCKUSICK, VA
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 28 (01): : 143 - 151
[10] HECHT JT, 1993, AM J HUM GENET, V52, P1230

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