Abstract:
:It is generally accepted that the blood group subtypes A1 and A2 expressions are controlled by two different blood group N-acetylgalactosaminyl-transferases, that is, A1-enzyme and A2-enzyme, respectively, and that the two types of enzymes are governed by the allelic A1 and A2 genes. The observed frequencies of blood types in Caucasians are compatible to this model. However, the subtype A2 character is far more frequently observed in AB red cells than in A red cells in some black and Oriental populations. Two black blood samples with phenotype A2B contained A1-enzyme, but not A2-enzyme, and exhibited several times higher B-enzyme activity than control AB and B blood. The kinetic properties, that is, pH-activity profile and Km for UDP-Gal, of the B-enzyme from these two A2B subjects differed from that of control B-enzyme. In these two cases, therefore, the A2 character was not caused by the subactive A2-enzyme, but because of an insufficient formation of the A-substances in red cell membranes presumably caused by the competition between the A1-enzyme and the super active atypical B-enzyme at the common H-sites. The results suggest that the B gene can be subdivided into usual B1 and atypical B2, and that not only A2B subjects but also A1B2 subjects could express A2 character in their red cells. The B2 gene may be common in certain black and Oriental populations.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Yoshida Asubject
Has Abstractpub_date
1983-11-01 00:00:00pages
1117-25issue
6eissn
0002-9297issn
1537-6605journal_volume
35pub_type
杂志文章abstract::The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, ...
journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1993-03-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1985-05-01 00:00:00
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journal_title:American journal of human genetics
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doi:10.1086/344779
更新日期:2002-12-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338997
更新日期:2002-03-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1993-12-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1990-06-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1994-11-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/340607
更新日期:2002-06-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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更新日期:1978-07-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/301948
更新日期:1998-08-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章,评审
doi:
更新日期:1989-08-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1991-06-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1978-05-01 00:00:00
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1982-03-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1016/j.ajhg.2018.08.013
更新日期:2018-10-04 00:00:00
abstract::The maximum-likelihood-binomial (MLB) method, based on the binomial distribution of parental marker alleles among affected offspring, recently was shown to provide promising results by two-point linkage analysis of affected-sibship data. In this article, we extend the MLB method to multipoint linkage analysis, using t...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/301958
更新日期:1998-08-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/301802
更新日期:1998-04-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章,收录出版
doi:10.1016/j.ajhg.2011.05.009
更新日期:2011-06-10 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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更新日期:2006-06-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
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更新日期:1991-05-01 00:00:00
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journal_title:American journal of human genetics
pub_type: 杂志文章
doi:
更新日期:1993-05-01 00:00:00