LOCALIZATION OF A GENE CAUSING CYSTINURIA TO CHROMOSOME 2P

被引：104

作者：

PRAS, E

ARBER, N

AKSENTIJEVICH, I

KATZ, G

SCHAPIRO, JM

PROSEN, L

GRUBERG, L

HAREL, D

LIBERMAN, U

WEISSENBACH, T

PRAS, M

KASTNER, DL

机构：

[1] NIAMSD,ARTHRITIS & RHEUMATISM BRANCH,BETHESDA,MD 20892

[2] BEILINSON MED CTR,DEPT MED D,PETAH TIQWA,ISRAEL

[3] BEILINSON MED CTR,DEPT METAB,PETAH TIQWA,ISRAEL

[4] BEILINSON MED CTR,CLIN LABS,PETAH TIQWA,ISRAEL

[5] HADASSAH MED CTR,DEPT UROL,JERUSALEM,ISRAEL

[6] CHAIM SHEBA MED CTR,DEPT MED F,IL-52621 TEL HASHOMER,ISRAEL

[7] CHAIM SHEBA MED CTR,HELLER INST MED RES,IL-52621 TEL HASHOMER,ISRAEL

[8] INST PASTEUR,UNITE GENET MOLEC HUMAINE,CNRS,URA 1445,F-75724 PARIS 15,FRANCE

来源：

NATURE GENETICS | 1994年 / 6卷 / 04期

关键词：

D O I：

10.1038/ng0494-415

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cystinuria is an autosomal recessive disorder of amino acid transport. It is a common hereditary cause of kidney stones worldwide, and is associated with significant morbidity. in 17 affected families, we found linkage between cystinuria and three chromosome 2p markers. Maximal two-point rod scores between cystinuria and D2S119, D2S391 and D2S288 were 8.23 (theta=0.07), 3.73 (theta=0.15) and 3.03 (theta=0.12), respectively. Analysis of recombinants and multipoint linkage data indicated that the most likely order is cen-D2S391-D2S119-cystinuria-D2S177-tel. We also observed high rates of homozygosity for markers in this chromosomal region among 11 affected offspring of consanguineous marriages. Based on its map position and function, the recently cloned SLC3A1 amino acid transporter gene is a primary candidate gene for this disease.

引用

页码：415 / 419

页数：5

共 33 条

[1] A GENE FOR FAMILIAL JUVENILE NEPHRONOPHTHISIS (RECESSIVE MEDULLARY CYSTIC KIDNEY-DISEASE) MAPS TO CHROMOSOME-2P [J].

ANTIGNAC, C ;

ARDUY, CH ;

BECKMANN, JS ;

BENESSY, F ;

GROS, F ;

MEDHIOUB, M ;

HILDEBRANDT, F ;

DUFIER, JL ;

KLEINKNECHT, C ;

BROYER, M ;

WEISSENBACH, J ;

HABIB, R ;

COHEN, D .

NATURE GENETICS, 1993, 3 (04) :342-345

[2]

BENHAMIDA C, 1993, NAT GENET, V5, P195

[3] LINKAGE OF TUNISIAN AUTOSOMAL RECESSIVE DUCHENNE-LIKE MUSCULAR-DYSTROPHY TO THE PERICENTROMERIC REGION OF CHROMOSOME 13Q [J].

BENOTHMANE, K ;

BENHAMIDA, M ;

PERICAKVANCE, MA ;

BENHAMIDA, C ;

BLEL, S ;

CARTER, SC ;

BOWCOCK, AM ;

PETRUKHIN, K ;

GILLIAM, TC ;

ROSES, AD ;

HENTATI, F ;

VANCE, JM .

NATURE GENETICS, 1992, 2 (04) :315-317

[4]

BERTRAN J, 1993, J BIOL CHEM, V268, P14842

[5] EXPRESSION CLONING OF A CDNA FROM RABBIT KIDNEY CORTEX THAT INDUCES A SINGLE TRANSPORT-SYSTEM FOR CYSTINE AND DIBASIC AND NEUTRAL AMINO-ACIDS [J].

BERTRAN, J ;

WERNER, A ;

MOORE, ML ;

STANGE, G ;

MARKOVICH, D ;

BIBER, J ;

TESTAR, X ;

ZORZANO, A ;

PALACIN, M ;

MURER, H .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (12) :5601-5605

[6]

DAHLBERG PJ, 1977, MAYO CLIN PROC, V52, P533

[7]

DENT CE, 1951, Q J MED, V20, P205

[8]

Ellis N. A., 1992, American Journal of Human Genetics, V51, pA187

[9] ASSIGNMENT OF THE GENE FOR WILSON DISEASE TO CHROMOSOME-13 - LINKAGE TO THE ESTERASE-D LOCUS [J].

FRYDMAN, M ;

BONNETAMIR, B ;

FARRER, LA ;

CONNEALLY, PM ;

MAGAZANIK, A ;

ASHBEL, S ;

GOLDWITCH, Z .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (06) :1819-1821

[10]

Garrod AE, 1908, LANCET, V2, P1

← 1 2 3 4 →