POLYMORPHISM OF DNA-SEQUENCE IN THE HUMAN PRO ALPHA-2(I) COLLAGEN GENE

被引:28
作者
GROBLERRABIE, AF
BREBNER, DK
VANDENPLAS, S
WALLIS, G
DALGLEISH, R
KAUFMAN, RE
BESTER, AJ
MATHEW, CGP
BOYD, CD
机构
[1] UNIV STELLENBOSCH,SCH MED,MRC,MOLEC & CELLULAR CARDIOL RES UNIT,TYGERBERG 7505,SOUTH AFRICA
[2] UNIV CAPE TOWN,DEPT HUMAN GENET,MRC,INHERITED SKELETAL DISORDERS RES UNIT,CAPE TOWN 7925,SOUTH AFRICA
[3] NHLBI,PULM BRANCH,BETHESDA,MD 20205
[4] DUKE UNIV,MED CTR,DEPT MED,DURHAM,NC 27710
关键词
D O I
10.1136/jmg.22.3.182
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:182 / 186
页数:5
相关论文
共 29 条
[1]   STRUCTURE OF A CDNA FOR THE PRO-ALPHA2 CHAIN OF HUMAN TYPE-I PROCOLLAGEN - COMPARISON WITH CHICK CDNA FOR PROALPHA2(I) IDENTIFIES STRUCTURALLY CONSERVED FEATURES OF THE PROTEIN AND THE GENE [J].
BERNARD, MP ;
MYERS, JC ;
CHU, ML ;
RAMIREZ, F ;
EIKENBERRY, EF ;
PROCKOP, DJ .
BIOCHEMISTRY, 1983, 22 (05) :1139-1145
[2]   PRENATAL-DIAGNOSIS USING DNA POLYMORPHISMS - REPORT ON 95 PREGNANCIES AT RISK FOR SICKLE-CELL DISEASE OR BETA-THALASSEMIA [J].
BOEHM, CD ;
ANTONARAKIS, SE ;
PHILLIPS, JA ;
STETTEN, G ;
KAZAZIAN, HH .
NEW ENGLAND JOURNAL OF MEDICINE, 1983, 308 (18) :1054-1058
[3]   STRUCTURALLY DISTINCT COLLAGEN TYPES [J].
BORNSTEIN, P ;
SAGE, H .
ANNUAL REVIEW OF BIOCHEMISTRY, 1980, 49 :957-1003
[4]  
BOTHA MC, 1972, S AFR MED J S, V1, P1
[5]  
BOTSTEIN D, 1980, AM J HUM GENET, V32, P314
[6]   SYNTHESIS OF PRESUMPTIVE PROCOLLAGEN MESSENGER RIBONUCLEIC-ACID IN CALVARIA OF DEVELOPING CHICK-EMBRYO [J].
BREITKREUTZ, D ;
DELEON, LD ;
PAGLIA, L ;
ZEICHNER, M ;
WILCZEK, J ;
STERN, R .
BIOCHIMICA ET BIOPHYSICA ACTA, 1978, 517 (02) :349-359
[7]   ABNORMAL ALPHA-2-CHAIN IN TYPE-I COLLAGEN FROM A PATIENT WITH A FORM OF OSTEOGENESIS IMPERFECTA [J].
BYERS, PH ;
SHAPIRO, JR ;
ROWE, DW ;
DAVID, KE ;
HOLBROOK, KA .
JOURNAL OF CLINICAL INVESTIGATION, 1983, 71 (03) :689-697
[8]  
CHU ML, 1984, NATURE, V310, P337, DOI 10.1038/310337a0
[9]   INTERNAL DELETION IN A COLLAGEN GENE IN A PERINATAL LETHAL FORM OF OSTEOGENESIS IMPERFECTA [J].
CHU, ML ;
WILLIAMS, CJ ;
PEPE, G ;
HIRSCH, JL ;
PROCKOP, DJ ;
RAMIREZ, F .
NATURE, 1983, 304 (5921) :78-80
[10]  
DALGLEISH R, 1982, J BIOL CHEM, V257, P13816