GENOTYPIC HETEROGENEITY AMONG LEWIS NEGATIVE INDIVIDUALS

被引：42

作者：

ELMGREN, A ^{[1
]}

RYDBERG, L ^{[1
]}

LARSON, G ^{[1
]}

机构：

[1] SAHLGRENS UNIV HOSP, DEPT CLIN CHEM & TRANSFUS MED, S-41345 GOTHENBURG, SWEDEN

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1993年 / 196卷 / 02期

关键词：

D O I：

10.1006/bbrc.1993.2280

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We have identified a C to T mutation at nucleotide No 314 in the coding region of the human α(1,3/1,4) fucoxyltransferase III (FT-III) gene held responsible for synthesis of Lewis a and b antigens. The mutation gives rise to an additional cleavage site for restriction enzyme NlaIII and was found in both alleles in 5 or 18 Lewis negative but in none of 22 Lewis positive individuals. Heterozygous individuals were found both among Le negative (10 of 18) and Le positive (4 of 22) individuals. The mutation corresponds to a threonine to methionine substitution and was found by partial sequencing of the coding sequence of one of five Lewis negative individuals homozygous for this transition. © 1993 Academic Press, Inc.

引用

页码：515 / 520

页数：6

共 15 条

[1] STUDIES ON SECRETION OF BLOOD-GROUP SUBSTANCES .2. OBSERVATIONS ON RED-CELL PHENOTYPE LE(A-B-X-) [J].

ARCILLA, MB ;

STURGEON, P .

VOX SANGUINIS, 1973, 25 (01) :72-87

[2] ELFT - A GENE THAT DIRECTS THE EXPRESSION OF AN ELAM-1 LIGAND [J].

GOELZ, SE ;

HESSION, C ;

GOFF, D ;

GRIFFITHS, B ;

TIZARD, R ;

NEWMAN, B ;

CHIROSSO, G ;

LOBB, R .

CELL, 1990, 63 (06) :1349-1356

[3]

GRUBB R, 1951, ACTA PATHOL MIC SC, V28, P61

[4]

HOLBURN AM, 1973, IMMUNOLOGY, V24, P1019

[5] PURIFICATION OF THE LEWIS BLOOD-GROUP GENE ASSOCIATED ALPHA-3/4-FUCOSYL-TRANSFERASE FROM HUMAN-MILK - AN ENZYME TRANSFERRING FUCOSE PRIMARILY TO TYPE-1 AND LACTOSE-BASED OLIGOSACCHARIDE CHAINS [J].

JOHNSON, PH ;

WATKINS, WM .

GLYCOCONJUGATE JOURNAL, 1992, 9 (05) :241-249

[6] THE CLONING AND EXPRESSION OF A HUMAN ALPHA-1,3 FUCOSYL-TRANSFERASE CAPABLE OF FORMING THE E-SELECTIN LIGAND [J].

KOSZDIN, KL ;

BOWEN, BR .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1992, 187 (01) :152-157

[7] A CLONED HUMAN CDNA DETERMINES EXPRESSION OF A MOUSE STAGE-SPECIFIC EMBRYONIC ANTIGEN AND THE LEWIS BLOOD GROUP-ALPHA-(1,3/1,4)FUCOSYLTRANSFERASE [J].

KUKOWSKALATALLO, JF ;

LARSEN, RD ;

NAIR, RP ;

LOWE, JB .

GENES & DEVELOPMENT, 1990, 4 (08) :1288-1303

[8] GLYCOSPHINGOLIPIDS WITH LEWIS BLOOD GROUP ACTIVITY - UPTAKE BY HUMAN ERYTHROCYTES [J].

MARCUS, DM ;

CASS, LE .

SCIENCE, 1969, 164 (3879) :553-&

[9]

MCBRIDE LJ, 1988, BIOTECHNIQUES, V6, P362

[10] A SIMPLE SALTING OUT PROCEDURE FOR EXTRACTING DNA FROM HUMAN NUCLEATED CELLS [J].

MILLER, SA ;

DYKES, DD ;

POLESKY, HF .

NUCLEIC ACIDS RESEARCH, 1988, 16 (03) :1215-1215

← 1 2 →