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Homozygosity for theδ-Chain Variant Haemoglobin A2″(Hbb2)(Δ16 Gly→Arg)

 

作者: LehmannH.,   JenkinsT.,   PlowmanD.,   NurseG. T.,  

 

期刊: Hemoglobin  (Taylor Available online 1985)
卷期: Volume 9, issue 4  

页码: 363-372

 

ISSN:0363-0269

 

年代: 1985

 

DOI:10.3109/03630268508997011

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

A healthy 20-year-old woman, belonging to the Kgalagadi tribe of Botswana, has been found to possess a variant Haemoglobin A2as her only minor haemoglobin component. Fingerprinting and amino-acid analysis have shown that it is Haemoglobin A2′(δ16 Gly→Arg). The one parent available for study is heterozygous for theHbδA2′allele and the variant haemoglobin accounts for 3% of the total haemoglobin in the proband. It is reasoned that the proband is, therefore, homozygous for theHbδA2′allele. No haematological abnormalities were evident.

 

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