GENETIC-LINKAGE OF FAMILIAL EXPANSILE OSTEOLYSIS TO CHROMOSOME 18Q

被引：86
作者：
HUGHES, AE
SHEARMAN, AM
WEBER, JL
BARR, RJ
WALLACE, RGH
OSTERBERG, PH
NEVIN, NC
MOLLAN, RAB
机构：
[1] QUEENS UNIV BELFAST, DEPT ORTHOPAED SURG, BELFAST BT9 7AB, NORTH IRELAND
[2] MARSHFIELD MED RES FDN, MARSHFIELD, WI 54449 USA
来源：
HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 02期
关键词：
D O I：
10.1093/hmg/3.2.359
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Familial expansile osteolysis is a rare bone dysplasia which is transmitted as an autosomal dominant trait in a large kindred in Northern Ireland. The gene which causes the disease shows tight linkage with several polymorphic markers on chromosome 18q with a maximum lod score of 11.53 at a recombination fraction of 0.00 with D18S64. The gene is flanked by D18S35 and D18S61 and is located at chromosome 18q21.1 - q22. Mapping a new locus for a gene involved in regulation of bone metabolism may also have implications in the study of Paget's disease of bone which is a common related bone dysplasia.
引用
收藏
页码：359 / 361
页数：3
相关论文
共 15 条
[1]   CHRONIC MULTIFOCAL OSTEOMYELITIS, A NEW RECESSIVE MUTATION ON CHROMOSOME-18 OF THE MOUSE [J].
BYRD, L ;
GROSSMANN, M ;
POTTER, M ;
SHENONG, GLC .
GENOMICS, 1991, 11 (04) :794-798
[2]  
Campanacci M, 1974, Chir Organi Mov, V61, P511
[3]  
CRONE MD, 1990, SKELETAL RADIOL, V19, P245
[4]   OSTEOLYTIC-EXPANSIVE TYPE OF FAMILIAL PAGETS-DISEASE (OSTEITIS-DEFORMANS) [J].
ENDERLE, A ;
WILLERT, HG .
PATHOLOGY RESEARCH AND PRACTICE, 1979, 166 (01) :131-139
[5]  
GUYER M, 1992, SCIENCE, V258, P67
[6]   OPTIMIZATION OF MICROSATELLITE ANALYSIS FOR GENETIC-MAPPING [J].
HUGHES, AE .
GENOMICS, 1993, 15 (02) :433-434
[7]  
LATHROP GM, 1985, AM J HUM GENET, V37, P482
[8]   REPORT OF THE 1ST INTERNATIONAL WORKSHOP ON HUMAN CHROMOSOME-18 MAPPING 1992 - HELD ON JULY 21-22, 1992 HOSTED BY THE UNIVERSITY-OF-CHICAGO, CHICAGO, ILLINOIS [J].
LEBEAU, MM ;
VANKESSEL, AHMG ;
OVERHAUSER, J ;
STRAUB, RE ;
SILVERMAN, G ;
GILLIAM, TC ;
OTT, J ;
OCONNELL, P ;
FRANCKE, U .
CYTOGENETICS AND CELL GENETICS, 1993, 63 (02) :77-96
[9]  
Mc Kusick V.A., 1972, HERITABLE DISORDERS, P718
[10]   DENTAL ABNORMALITIES ASSOCIATED WITH FAMILIAL EXPANSILE OSTEOLYSIS - A CLINICAL AND RADIOGRAPHIC STUDY [J].
MITCHELL, CA ;
KENNEDY, JG ;
WALLACE, RGH .
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS, 1990, 70 (03) :301-307
12