首页   按字顺浏览 期刊浏览 卷期浏览 “Unclassifiable” weak A blood group and deficient H phenotype (Hm) in one pedigree
“Unclassifiable” weak A blood group and deficient H phenotype (Hm) in one pedigree

 

作者: Jan Light,   Robert E. Wenk,   Pamela Greenwell,  

 

期刊: Clinical Genetics  (WILEY Available online 1987)
卷期: Volume 31, issue 1  

页码: 7-12

 

ISSN:0009-9163

 

年代: 1987

 

DOI:10.1111/j.1399-0004.1987.tb02760.x

 

出版商: Blackwell Publishing Ltd

 

关键词: ABO group;A subgroups;glycosyltransferases;H‐substance;linkage;pedigree analysis

 

数据来源: WILEY

 

摘要:

A new variant of blood group A [A(WAS)] was expressed in three generations of a Caucasian family: Phenotype included weak mixed field hemagglutination by anti‐A reagents, secretion of H substance, and presence of anti‐Ai in serum. The A(WAS) variant was inherited in a Mendelian fashion, dominant to O. A‐transferase activity was absent from cells and saliva but was 0.2% of normal A, transferase activity in serum, with a pH optimum of 6.0. Family members expressing A(WAS) also demonstrated partly deficient H type on cells (Hm). H‐transferase activity in serum was normal for a weak A subgroup and showed typical Km and acceptor specificities. Linkage of H‐modifier and ABO loci cannot be

 

点击下载:  PDF (334KB)



返 回