A 27-BP DELETION FROM ONE ALLELE OF THE TYPE-III COLLAGEN GENE (COL3A1) IN A LARGE FAMILY WITH EHLERS-DANLOS SYNDROME TYPE-IV

被引：30

作者：

RICHARDS, AJ ^{[1
]}

LLOYD, JC ^{[1
]}

NARCISI, P ^{[1
]}

WARD, PN ^{[1
]}

NICHOLLS, AC ^{[1
]}

DEPAEPE, A ^{[1
]}

POPE, FM ^{[1
]}

机构：

[1] STATE UNIV GHENT HOSP,CTR MED GENET,B-9000 GHENT,BELGIUM

来源：

HUMAN GENETICS | 1992年 / 88卷 / 03期

关键词：

D O I：

10.1007/BF00197268

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A large family with Ehlers-Danlos syndrome type IV (EDS IV) has previously been described. Unlike most cases of EDS IV, fibroblasts from affected members secreted near normal amounts of type III collagen. We have localised the mutation in this family to the CB5 peptide of type III collagen, by using both protein and cDNA mapping techniques. Sequence analysis of cDNA revealed a 27-bp deletion within exon 37, a deletion that removed nine amino acids and maintained the Gly-X-Y repeat of the collagen helix. Further sequencing of genomic DNA confirmed its location, and amplification of DNA from family members showed that it was absent in unaffected individuals but present in all the affected individuals tested. This deletion is flanked by two short direct repeats of CTCC; it may have arisen by slipped mispairing, and has subsequently been transmitted to all affected family members.

引用

页码：325 / 330

页数：6

共 36 条

[21] LINKAGE OF A POLYMORPHIC MARKER FOR THE TYPE-III COLLAGEN GENE (COL3A1) TO ATYPICAL AUTOSOMAL DOMINANT EHLERS-DANLOS SYNDROME TYPE-IV IN A LARGE BELGIAN PEDIGREE [J].

NICHOLLS, AC ;

DEPAEPE, A ;

NARCISI, P ;

DALGLEISH, R ;

DEKEYSER, F ;

MATTON, M ;

POPE, FM .

HUMAN GENETICS, 1988, 78 (03) :276-281

[22] PATIENTS WITH EHLERS-DANLOS SYNDROME TYPE-IV LACK TYPE-III COLLAGEN [J].

POPE, FM ;

MARTIN, GR ;

LICHTENSTEIN, JR ;

PENTTINEN, R ;

GERSON, B ;

ROWE, DW ;

MCKUSICK, VA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (04) :1314-1316

[23] CHARACTERIZATION OF A GLYCINE TO VALINE SUBSTITUTION AT AMINO-ACID POSITION-910 OF THE TRIPLE HELICAL REGION OF TYPE-III COLLAGEN IN A PATIENT WITH EHLERS-DANLOS SYNDROME TYPE-IV [J].

RICHARDS, AJ ;

LLOYD, JC ;

WARD, PN ;

DEPAEPE, A ;

NARCISI, P ;

POPE, FM .

JOURNAL OF MEDICAL GENETICS, 1991, 28 (07) :458-463

[24] DETECTION OF NOVEL GENETIC-MARKERS BY MISMATCH ANALYSIS [J].

ROBERTS, RG ;

MONTANDON, AJ ;

BOBROW, M ;

BENTLEY, DR .

NUCLEIC ACIDS RESEARCH, 1989, 17 (15) :5961-5971

[25] ENZYMATIC AMPLIFICATION OF BETA-GLOBIN GENOMIC SEQUENCES AND RESTRICTION SITE ANALYSIS FOR DIAGNOSIS OF SICKLE-CELL ANEMIA [J].

SAIKI, RK ;

SCHARF, S ;

FALOONA, F ;

MULLIS, KB ;

HORN, GT ;

ERLICH, HA ;

ARNHEIM, N .

SCIENCE, 1985, 230 (4732) :1350-1354

[26]

STOLLE CA, 1985, J BIOL CHEM, V260, P1937

[27] MOLECULAR DEFECTS OF TYPE-III PROCOLLAGEN IN EHLERS-DANLOS SYNDROME TYPE-IV [J].

SUPERTIFURGA, A ;

STEINMANN, B ;

RAMIREZ, F ;

BYERS, PH .

HUMAN GENETICS, 1989, 82 (02) :104-108

[28]

SUPERTIFURGA A, 1988, J BIOL CHEM, V263, P6226

[29] DETECTION OF TYPE-III COLLAGEN IN SKIN FIBROBLASTS FROM PATIENTS WITH EHLERS-DANLOS SYNDROME TYPE-IV BY IMMUNOFLUORESCENCE [J].

TEMPLE, AS ;

HINTON, P ;

NARCISI, P ;

POPE, FM .

BRITISH JOURNAL OF DERMATOLOGY, 1988, 118 (01) :17-26

[30]

THAKKERVARIA S, 1990, MATRIX, V4, P249

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