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Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia
TLDR
A reliable, single-tube multiplex–polymerase chain reaction (PCR) assay for the 6 most frequently observed determinants of -thalassemia is developed, which allows simple, high throughput genetic screening for these common hematological disorders.
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.
TLDR
A reliable, single-tube multiplex-polymerase chain reaction (PCR) assay for the 6 most frequently observed determinants of alpha-thalassemia is developed, which allows simple, high throughput genetic screening for these common hematological disorders.
ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
TLDR
A detailed analysis of all 406 X‐ALD mutations currently included in the database is reported, and 47 novel mutations are presented, including 47 novel extensions of the ABCD1 gene.
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.
TLDR
A nonrandom association of DNA sequences over 32 kb 5' to the delta-globin gene in all populations studied is suggested, which limits the usefulness of these additional HincII sites for prenatal diagnosis of hemoglobinopathies by linkage analysis.
A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion
TLDR
The discovery of a 2 kilobase insertion containing a rearranged L1 element in the dystrophin gene of a muscular dystrophy patient and cloned the precursor of this insertion demonstrate that multiple active L1 elements exist in the human genome, and that a readthrough transcript of an active element is capable of retrotransposition.
Phylogeny of human beta-globin haplotypes and its implications for recent human evolution.
TLDR
An African origin for modern Homo sapiens and a phyletic structuring of the major geographical regions are supported and it is shown that divergence times for the various populations cannot be determined from these data.
Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
Combined analysis of DNA polymorphisms in the human β-globin gene cluster and in cloned β-genes has revealed the association of specific β-thalassaemia mutations and β-gene polymorphisms with
Nonuniform recombination within the human beta-globin gene cluster.
TLDR
Population genetic analysis of 15 restriction site polymorphisms demonstrates nonuniform recombination within the human beta-globin gene cluster, a hot spot for meiotic recombination.
Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia
TLDR
A reliable, single-tube multiplex–polymerase chain reaction (PCR) assay for the 6 most frequently observed determinants of -thalassemia is developed, which allows simple, high throughput genetic screening for these common hematological disorders.
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