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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1989-8-29
|
| pubmed:abstractText |
The beta-gene-cluster haplotype and alpha-gene status were determined for 221 patients with sickle cell anemia, 41 with SC disease, and 21 with S-beta-thalassemia. Among SS patients, eleven beta S haplotypes were found in 21 combinations. Three haplotypes--the Benin (Ben) [---+-], the Central African Republic (CAR) [+---+], and the Senegal (Sen) [+- ]--comprise 61%, 21%, and 10% of the chromosomes, respectively. Cleavage at the Xmn I site 5' to the G gamma gene was observed only when the Senegalese arrangement was present. The linear correlation which exists between the absolute value of the G gamma chains and the Hb F for each haplotype combination suggests a feed-back mechanism which controls the G gamma to A gamma ratio and thus the Hb F level (or vice versa). The A gamma T chain was present with specific haplotypes [++-++] and [++-+-]. Heterozygous or homozygous alpha-thalassemia-2 was present in 36% of the SS patients and was randomly distributed among beta S-gene-cluster haplotypes. The variable levels of hemoglobin, MCV, Hb F, G gamma chains, and Hb A2 are in response to the heterogeneous genetic mix of the beta S-gene-cluster haplotypes and alpha-thalassemia-2 in American patients with sickle cell anemia. The influence of alpha-thalassemia-2 on the level of Hb F is dependent on the beta S-cluster haplotype. Hb A2 levels increased with decrease in the number of alpha genes. Among SC and S-beta-thalassemia patients the beta-cluster polymorphisms on the beta S chromosome were those commonly associated with the African origins of beta S haplotype. The haplotype [+--+-] was present on the C chromosome in 90% of the cases. Most beta-thalassemia chromosomes had haplotypes that matched the common African polymorphisms. An alpha-gene deletion was found in 29% of the SC and S-beta-thalassemia patients.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Deoxyribonuclease BamHI,
http://linkedlifedata.com/resource/pubmed/chemical/Deoxyribonuclease EcoRI,
http://linkedlifedata.com/resource/pubmed/chemical/Deoxyribonucleases, Type II...,
http://linkedlifedata.com/resource/pubmed/chemical/Fetal Hemoglobin,
http://linkedlifedata.com/resource/pubmed/chemical/Globins,
http://linkedlifedata.com/resource/pubmed/chemical/Hemoglobin A2,
http://linkedlifedata.com/resource/pubmed/chemical/endodeoxyribonuclease XmnI
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0363-0269
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
13
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
325-53
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:2473969-Adolescent,
pubmed-meshheading:2473969-Adult,
pubmed-meshheading:2473969-Aged,
pubmed-meshheading:2473969-Anemia, Sickle Cell,
pubmed-meshheading:2473969-California,
pubmed-meshheading:2473969-Child,
pubmed-meshheading:2473969-Child, Preschool,
pubmed-meshheading:2473969-Deoxyribonuclease BamHI,
pubmed-meshheading:2473969-Deoxyribonuclease EcoRI,
pubmed-meshheading:2473969-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:2473969-Fetal Hemoglobin,
pubmed-meshheading:2473969-Globins,
pubmed-meshheading:2473969-Haplotypes,
pubmed-meshheading:2473969-Hemoglobin A2,
pubmed-meshheading:2473969-Hemoglobin SC Disease,
pubmed-meshheading:2473969-Humans,
pubmed-meshheading:2473969-Middle Aged,
pubmed-meshheading:2473969-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:2473969-Thalassemia
|
| pubmed:year |
1989
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| pubmed:articleTitle |
Beta-cluster haplotypes, alpha-gene status, and hematological data from SS, SC, and S-beta-thalassemia patients in southern California.
|
| pubmed:affiliation |
Division of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena 91125.
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| pubmed:publicationType |
Journal Article
|