A 2ND LOCUS FOR MARFAN-SYNDROME MAPS TO CHROMOSOME-3P24.2-P25

被引：115

作者：

COLLOD, G

BABRON, MC

JONDEAU, G

COULON, M

WEISSENBACH, J

DUBOURG, O

BOURDARIAS, JP

BONAITIPELLIE, C

JUNIEN, C

BOILEAU, C

机构：

[1] UNIV PARIS 05,HOP NECKER ENFANTS MALAD,INSERM,U383,F-75743 PARIS 15,FRANCE

[2] INSERM,U155,F-75016 PARIS,FRANCE

[3] CHU AMBROISE PARE,SERV CARDIOL,F-92104 BOULOGNE,FRANCE

[4] GENETHON,F-91002 EVRY,FRANCE

[5] CHU AMBROSIE PARE,CENT BIOCHIM & GENET LAB,F-92104 BOULOGNE,FRANCE

来源：

NATURE GENETICS | 1994年 / 8卷 / 03期

关键词：

D O I：

10.1038/ng1194-264

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder characterized by skeletal, ocular and cardiovascular defects of highly variable expressivity. The diagnosis relies solely on clinical criteria requiring anomalies in at least two systems. By excluding the chromosome 15 disease locus, fibrillin 1 (FBN1), in a large French family with typical cardiovascular and skeletal anomalies, we raised the issue of genetic heterogeneity in MFS and the implication of a second locus (MFS2). Linkage analyses, performed in this family, have localized MFS2 to a region of 9 centiMorgans between D3S1293 and D3S1283, at 3p24.2-p25. In this region, the highest lod score was found with D3S2336, of 4.89 (theta=0.05). By LINKMAP analyses, the most probable position for the second locus in MFS was at D3S2335.

引用

页码：264 / 268

页数：5

共 37 条

[1] LINKAGE OF AUTOSOMAL DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 3 BRITISH FAMILIES TO THE MARKER D3S2 CLOSE TO THE COL7A1 LOCUS [J].

ALIMARA, L ;

RICHARDS, AJ ;

EADY, RAJ ;

LEIGH, IM ;

FARRALL, M ;

POPE, FM .

JOURNAL OF MEDICAL GENETICS, 1992, 29 (06) :381-382

[2] QUANTITATIVE DIFFERENCES IN BIOSYNTHESIS AND EXTRACELLULAR DEPOSITION OF FIBRILLIN IN CULTURED FIBROBLASTS DISTINGUISH 5 GROUPS OF MARFAN-SYNDROME PATIENTS AND SUGGEST DISTINCT PATHOGENETIC MECHANISMS [J].

AOYAMA, T ;

FRANCKE, U ;

DIETZ, HC ;

FURTHMAYR, H .

JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (01) :130-137

[3]

ARNASINO RM, 1986, ANAL BIOCHEM, V152, P304

[4] INTERNATIONAL NOSOLOGY OF HERITABLE DISORDERS OF CONNECTIVE-TISSUE, BERLIN, 1986 [J].

BEIGHTON, P ;

DEPAEPE, A ;

DANKS, D ;

FINIDORI, G ;

GEDDEDAHL, T ;

GOODMAN, R ;

HALL, JG ;

HOLLISTER, DW ;

HORTON, W ;

MCKUSICK, VA ;

OPITZ, JM ;

POPE, FM ;

PYERITZ, RE ;

RIMOIN, DL ;

SILLENCE, D ;

SPRANGER, JW ;

THOMPSON, E ;

TSIPOURAS, P ;

VILJOEN, D ;

WINSHIP, I ;

YOUNG, I .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (03) :581-594

[5] AN EXCLUSION MAP OF MARFAN-SYNDROME [J].

BLANTON, SH ;

SARFARAZI, M ;

EIBERG, H ;

DEGROOTE, J ;

FARNDON, PA ;

KILPATRICK, MW ;

CHILD, AH ;

POPE, FM ;

PELTONEN, L ;

FRANCOMANO, CA ;

BOILEAU, C ;

KESTON, M ;

TSIPOURAS, P .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (02) :73-77

[6]

BOILEAU C, 1994, AM J HUM GENET, V54, P554

[7] LINKAGE ANALYSIS OF 5 FIBRILLAR COLLAGEN LOCI IN A LARGE FRENCH MARFAN-SYNDROME FAMILY [J].

BOILEAU, C ;

JONDEAU, G ;

BONAITI, C ;

COULON, M ;

DELORME, G ;

DUBOURG, O ;

BOURDARIAS, JP ;

JUNIEN, C .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (02) :78-81

[8]

BOILEAU C, 1993, AM J HUM GENET, V53, P46

[9] A MISSENSE MUTATION IN TYPE-VII COLLAGEN IN 2 AFFECTED SIBLINGS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA [J].

CHRISTIANO, AM ;

GREENSPAN, DS ;

HOFFMAN, GG ;

ZHANG, X ;

TAMAI, Y ;

LIN, AN ;

DIETZ, HC ;

HOVNANIAN, A ;

UITTO, J .

NATURE GENETICS, 1993, 4 (01) :62-66

[10] PCR-BASED DETECTION OF 2 EXONIC POLYMORPHISMS IN THE HUMAN TYPE-VII COLLAGEN GENE (COL7A1) AT 3P21.1 [J].

CHRISTIANO, AM ;

CHUNGHONET, LC ;

HOVNANIAN, A ;

UITTO, J .

GENOMICS, 1992, 14 (03) :827-828

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