THE COL6A1 AND COL6A2 GENES EXIST AS A GENE-CLUSTER AND DETECT HIGHLY INFORMATIVE DNA POLYMORPHISMS IN THE TELOMERIC REGION OF HUMAN CHROMOSOME-21Q

被引:31
作者
FRANCOMANO, CA
CUTTING, GR
MCCORMICK, MK
CHU, ML
TIMPL, R
HONG, HK
ANTONARAKIS, SE
机构
[1] JOHNS HOPKINS UNIV,SCH MED,DEPT MED,BALTIMORE,MD 21205
[2] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
[3] THOMAS JEFFERSON UNIV,JEFFERSON MED COLL,JEFFERSON INST MOLEC MED,DEPT BIOCHEM & MOLEC BIOL,PHILADELPHIA,PA 19107
[4] MAX PLANCK INST BIOCHEM,W-8033 MARTINSRIED,GERMANY
关键词
D O I
10.1007/BF00204174
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The genes that encode the alpha 1 (VI) and alpha 2 (VI) collagen chains, designated COL6A1 and COL6A2, map to human chromosomal band 21q22.3. Using pulsed-field gel electrophoresis and somatic cell hybrids, we found that COL6A1 and COL6A2 form a gene cluster on the most distal part of chromosome 21. Furthermore, we detected several DNA polymorphisms (both restriction site and VNTRs) associated with these loci. These polymorphisms make the COL6A1 and COL6A2 genes among the most informative markers on human chromosome 21.
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页码:162 / 166
页数:5
相关论文
共 19 条
[1]   HEMOPHILIA-A - DETECTION OF MOLECULAR DEFECTS AND OF CARRIERS BY DNA ANALYSIS [J].
ANTONARAKIS, SE ;
WABER, PG ;
KITTUR, SD ;
PATEL, AS ;
KAZAZIAN, HH ;
MELLIS, MA ;
COUNTS, RB ;
STAMATOYANNOPOULOS, G ;
BOWIE, EJW ;
FASS, DN ;
PITTMAN, DD ;
WOZNEY, JM ;
TOOLE, JJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1985, 313 (14) :842-848
[2]   ALPHA-1(IV) AND ALPHA-2(IV) COLLAGEN GENES ARE REGULATED BY A BIDIRECTIONAL PROMOTER AND A SHARED ENHANCER [J].
BURBELO, PD ;
MARTIN, GR ;
YAMADA, Y .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (24) :9679-9682
[3]   SEPARATION OF CHROMOSOMAL DNA-MOLECULES FROM YEAST BY ORTHOGONAL-FIELD-ALTERNATION GEL-ELECTROPHORESIS [J].
CARLE, GF ;
OLSON, MV .
NUCLEIC ACIDS RESEARCH, 1984, 12 (14) :5647-5664
[4]   SEPARATION OF LARGE DNA-MOLECULES BY CONTOUR-CLAMPED HOMOGENEOUS ELECTRIC-FIELDS [J].
CHU, G ;
VOLLRATH, D ;
DAVIS, RW .
SCIENCE, 1986, 234 (4783) :1582-1585
[5]   CHARACTERIZATION OF 3 CONSTITUENT CHAINS OF COLLAGEN TYPE-VI BY PEPTIDE SEQUENCES AND CDNA CLONES [J].
CHU, ML ;
MANN, K ;
DEUTZMANN, R ;
PRIBULACONWAY, D ;
HSUCHEN, CC ;
BERNARD, MP ;
TIMPL, R .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1987, 168 (02) :309-317
[6]  
CUTTING GR, 1988, MOL BIOL MED, V5, P173
[7]   MACRORESTRICTION MAPPING OF COL4A1 AND COL4A2 COLLAGEN GENES ON HUMAN-CHROMOSOME 13Q34 [J].
CUTTING, GR ;
KAZAZIAN, HH ;
ANTONARAKIS, SE ;
KILLEN, PD ;
YAMADA, Y ;
FRANCOMANO, CA .
GENOMICS, 1988, 3 (03) :256-263
[8]   PHYSICAL MAPPING BY PFGE LOCALIZES THE COL3A1 AND COL5A2 GENES TO A 35-KB REGION ON HUMAN CHROMOSOME-2 [J].
CUTTING, GR ;
MCGINNISS, MJ ;
KASCH, LM ;
TSIPOURAS, P ;
ANTONARAKIS, SE .
GENOMICS, 1990, 8 (02) :407-410
[9]  
HATAMOCHI A, 1989, J BIOL CHEM, V264, P3494
[10]   ANALYSIS OF HUMAN Y-CHROMOSOME-SPECIFIC REITERATED DNA IN CHROMOSOME VARIANTS [J].
KUNKEL, LM ;
SMITH, KD ;
BOYER, SH ;
BORGAONKAR, DS ;
WACHTEL, SS ;
MILLER, OJ ;
BREG, WR ;
JONES, HW ;
RARY, JM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (03) :1245-1249