A GENE FOR BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME MAPS TO CHROMOSOME 3Q23

被引：67

作者：

AMATI, P

CHOMEL, JC

NIVELONCHEVALIER, A

GILGENKRANTZ, S

KITZIS, A

KAPLAN, J

BONNEAU, D

机构：

[1] CHU POITIERS,GENET CELLULAIRE & MOLEC LAB,F-86021 POITIERS,FRANCE

[2] CHU POITIERS,UNITE GENET MED,F-86021 POITIERS,FRANCE

[3] CHU DIJON,F-21034 DIJON,FRANCE

[4] CTR RECH TRANSFUS SANGUINE NANCY BRABOIS,GENET LAB,F-54511 VANDOEUVRE NANCY,FRANCE

[5] HOP NECKER ENFANTS MALAD,SERV GENET,F-75743 PARIS 15,FRANCE

[6] HOP NECKER ENFANTS MALAD,INSERM,U393,UNITE RECH HANDICAPS GENET ENFANT,F-75743 PARIS 15,FRANCE

来源：

HUMAN GENETICS | 1995年 / 96卷 / 02期

关键词：

D O I：

10.1007/BF00207381

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant malformation of the eyelids that may severely impair visual function. Chromosomal aberrations involving chromosomes 3q23, 3p25 and 7p34 have been reported in BPES but the disease gene has not been hitherto localized by linkage analysis. We have mapped a gene for BPES to chromosome 3q23 in a large French pedigree (Z(max) = 4.62 at Theta = 0 for probe AFM 182yc5 at locus D3S1549). The best estimate for the location of the disease gene is at locus D3S1549, between the loci D3S1292 and D3S1555 (maximum lod score of 5.10).

引用

页码：213 / 215

页数：3

共 28 条

[1] COMPLEX TRANSLOCATION INVOLVING CHROMOSOME-Y, CHROMOSOME-1, AND CHROMOSOME-3 RESULTING IN DELETION OF SEGMENT 3Q23-]Q25 [J].

ALAWADI, SA ;

NAGUIB, KK ;

FARAG, TI ;

TEEBI, AS ;

CUSCHIERI, A ;

ALOTHMAN, SA ;

SUNDARESHAN, TS .

JOURNAL OF MEDICAL GENETICS, 1986, 23 (01) :91-92

[2] INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME 3 - CASE-REPORT, REVIEW, AND DEFINITION OF A PHENOTYPE [J].

ALVARADO, M ;

BOCIAN, M ;

WALKER, AP .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (04) :781-786

[3] BLEPHAROPHIMOSIS, PTOSIS, EPICANTHUS INVERSUS SYNDROME, A NEW CASE ASSOCIATED WITH DE-NOVO BALANCED AUTOSOMAL TRANSLOCATION [46,XY,T(37) (Q23Q32)] [J].

BOCCONE, L ;

MELONI, A ;

FALCHI, AM ;

USAI, V ;

CAO, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (03) :258-259

[4] ANOTHER EXAMPLE FAVORING THE LOCATION OF BPES AT 3Q2 [J].

DEALMEIDA, JCC ;

LLERENA, JC ;

NETO, JBG ;

JUNG, M ;

MARTINS, RR .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (01) :86-86

[5] FURTHER EVIDENCE FOR THE LOCATION OF THE BPES GENE AT 3Q2 [J].

DEDIESMULDERS, CEM ;

ENGELEN, JJM ;

DONK, JM ;

FRYNS, JP .

JOURNAL OF MEDICAL GENETICS, 1991, 28 (10) :725-725

[6]

FRYNS JP, 1994, CLIN GENET, V44, P149

[7] BOY WITH A CHROMOSOME DEL (3)(Q12Q23) AND BLEPHAROPHIMOSIS SYNDROME [J].

FUJITA, H ;

MENG, JG ;

KAWAMURA, M ;

TOZUKA, N ;

ISHII, F ;

TANAKA, N .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (04) :434-436

[8] BLEPHAROPHIMOSIS SEQUENCE AND DENOVO BALANCED AUTOSOMAL TRANSLOCATION [46,XY,T(3-4)(Q23-P15.2)] - POSSIBLE ASSIGNMENT OF THE TRAIT TO 3Q23 [J].

FUKUSHIMA, Y ;

WAKUI, K ;

NISHIDA, T ;

UEOKA, Y .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 40 (04) :485-487

[9] THE 1993-94 GENETHON HUMAN GENETIC-LINKAGE MAP [J].

GYAPAY, G ;

MORISSETTE, J ;

VIGNAL, A ;

DIB, C ;

FIZAMES, C ;

MILLASSEAU, P ;

MARC, S ;

BERNARDI, G ;

LATHROP, M ;

WEISSENBACH, J .

NATURE GENETICS, 1994, 7 (02) :246-339

[10]

ISHIKIRIYAMA S, 1994, AM J MED GENET, V47, P487

← 1 2 3 →