Rapid Detection of Deletions Causing S@ Thalassemia and Hereditary Persistence of Fetal Hemoglobin by Enzymatic Amplification
نویسندگان
چکیده
A considerable number of deletions of variable size and position that involve the B-globin gene complex on chromosome 1 1 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and a@ thalassemia. Specific deletions appear to be associated with consistent phenotypes and some are known to be recurrent. To facilitate the molecular diagnosis of uncharacterized patients with HPFH and 6@ thalassemia, oligonucleotide primers have been designed to enzymatically amplify deletion-specific products for nine k own deletions, which include those responsible for HPFH-1, HPFH-2, HPFH-3, Spanish thalassemia, hemoglobin (Hb) Lepore, Sicilian (S@)o thalassemia, Chinese o-y(A-y6@)o thalassemia, Asian-lndian inversion-deletion Gr(A-y6@)o thalassemia, and Turkish inversion-deletion (a@)' thalassemia. Using this approach, we have successfully characterized the molecular basis for
منابع مشابه
Rapid Detection of Deletions Causing
A considerable number of deletions of variable size and position that involve the B-globin gene complex on chromosome 1 1 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and a@ thalassemia. Specific deletions appear to be associated with consistent phenotypes and some are known to be recurrent. To facilitate the molecular diagnosis of uncharacte...
متن کاملNature of fetal hemoglobin in the Greek type of hereditary persistence of fetal hemoglobin with and without concurrent beta-thalassemia.
The fetal hemoglobin in the affected members of three Greek families with the hereditary persistence of fetal hemoglobin has only gamma-chains of the type with alanine in position 136. Although certain Negro families had been considered to have only this type of gamma-chains in their fetal hemoglobin, further studies required that they be reclassified. Consequently, the Greek cases are the sole...
متن کاملDetection and characterisation of beta-globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification.
BACKGROUND Deletions in the beta-globin cluster causing thalassaemia and hereditary persistence of fetal haemoglobin (HPFH) are uncommon and difficult to detect. Data in Chinese are very scarce. AIMS To use a recently available technique to investigate the frequencies and nature of beta-globin cluster deletions in Chinese. METHODS 106 subjects with phenotypes of thalassaemia or HPFH and sus...
متن کاملThe deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases.
The most common forms of hereditary persistence of fetal hemoglobin (HPFH) involve large deletions that remove the adult delta and beta genes but leave the paired fetal genes (G gamma and A gamma) intact. The size of these deletions has previously eluded exact definition. Using pulsed-field gel electrophoresis and the enzyme SfiI, which cuts only rarely in genomic DNA, we have constructed a lar...
متن کاملSequence analysis of the gamma-globin gene locus from a patient with the deletion form of hereditary persistence of fetal hemoglobin.
The gamma-globin genes from a patient homozygous for a deletion form of hereditary persistence of fetal hemoglobin (HPFH-1) have been cloned and sequenced. The DNA sequence of the patient's gamma-globin genes corresponds to a previously identified sequence framework (chromosome A) with the exception of 10 base changes. Seven of these base changes can be attributed to normal allelic variation ge...
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