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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