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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1994-5-19
|
| pubmed:abstractText |
While analyzing 280 hemoglobinopathy kindreds with prescribed molecular tests, 3 unusual mutations were observed that required additional characterization. In the first case, the hypervariable region flanking the alpha-globin genes generated an intermediate length 8.2 kb psi zeta-globin gene fragment on a Southeast Asian chromosome with two deleted alpha-globin genes. Rehybridization of the Southern blot with alpha-globin probe distinguished the mutation unambiguously. In the second case, restriction enzyme analysis of a PCR amplified black beta-globin gene detected a novel beta-83 point mutation adjacent to a promoter element. In the third case, which was uninformative with available allele specific oligonucleotides (ASOs), total genomic PCR amplification and sequencing identified a single basepair insertion in codon 36/37 of an Iranian beta-globin gene that shifted the reading frame and obliterated gene activity. Developing additional region-specific ASOs will further diminish the number of cases that must be characterized by genomic PCR sequencing.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0148-7299
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
1
|
| pubmed:volume |
50
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
15-20
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:8160747-Anemia, Sickle Cell,
pubmed-meshheading:8160747-Base Sequence,
pubmed-meshheading:8160747-Chorionic Villi Sampling,
pubmed-meshheading:8160747-DNA Mutational Analysis,
pubmed-meshheading:8160747-DNA Primers,
pubmed-meshheading:8160747-Female,
pubmed-meshheading:8160747-Fetal Diseases,
pubmed-meshheading:8160747-Frameshift Mutation,
pubmed-meshheading:8160747-Gene Deletion,
pubmed-meshheading:8160747-Haplotypes,
pubmed-meshheading:8160747-Hemoglobinopathies,
pubmed-meshheading:8160747-Humans,
pubmed-meshheading:8160747-Male,
pubmed-meshheading:8160747-Molecular Sequence Data,
pubmed-meshheading:8160747-Mutation,
pubmed-meshheading:8160747-Oligonucleotide Probes,
pubmed-meshheading:8160747-Pedigree,
pubmed-meshheading:8160747-Point Mutation,
pubmed-meshheading:8160747-Polymerase Chain Reaction,
pubmed-meshheading:8160747-alpha-Thalassemia,
pubmed-meshheading:8160747-beta-Thalassemia
|
| pubmed:year |
1994
|
| pubmed:articleTitle |
Prenatal diagnosis of unusual hemoglobinopathies.
|
| pubmed:affiliation |
Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco 94143-0720.
|
| pubmed:publicationType |
Journal Article
|