Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction

1992 ◽  
Vol 88 (3) ◽  
Author(s):  
Tsang-Ming Ko ◽  
Li-Hui Tseng ◽  
Fon-Jon Hsieh ◽  
Pi-Mei Hsu ◽  
Tzu-Yao Lee
Keyword(s):  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
Southeast Asian ◽  
Carrier Detection ◽  
Chain Reaction ◽  
Alpha Thalassemia ◽  
Polymerase Chain

scholarly journals Interaction of rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of alpha thalassemia

Blood ◽  
1994 ◽  
Vol 83 (11) ◽  
pp. 3356-3362 ◽  
Author(s):  
P Fortina ◽  
T Parrella ◽  
M Sartore ◽  
E Gottardi ◽  
V Gabutti ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Sequence Analysis ◽  
Recombination Event ◽  
Globin Gene ◽  
Severe Form ◽  
Illegitimate Recombination ◽  
Chain Reaction ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Polymerase Chain

Abstract The clinical diversity of thalassemia depends on interaction of diverse genetic defects. We have characterized a severe form of alpha thalassemia caused by coinheritance of a rare alpha-globin gene deletion and a nondeletional defect in a southern Italian family. The proband, a 7-year-old girl, exhibited an abnormal hemoglobin electrophoresis pattern with hemoglobin H and hemoglobin Barts, indicating inheritance of H and hemoglobin Barts, indicating inheritance of a severe form of alpha thalassemia. Southern blot analysis of DNA showed normal as well as aberrant alpha-globin gene fragments indicating heterozygosity for a deletional form of alpha thalassemia in the proband and her mother. The coinheritance of a nondeletional form of alpha thalassemia (alpha alpha T) was suspected because of the severity of the proband's phenotype and the presence of normal alpha-globin gene fragments in the father. Selective polymerase chain reaction of the paternal alpha 1- and alpha 2-globin genes in the proband followed by DNA sequence analysis showed an AATAAA to AATGAA mutation in the polyadenylation signal sequence of the alpha 2-globin gene. Genomic DNA mapping and sequence analysis of a unique polymerase chain reaction product generated across the deletion breakpoint of the maternal allele showed a 5,201-bp deletion extending from 870 nucleotides 5′ of the alpha 2-globin gene to nucleotide +519 in the alpha 1-globin gene. This deletion is similar to that previously suggested by blotting studies in a Greek family (Pressley et al, Nucleic Acids Res 8:4889, 1980) and removes the entire alpha 2-globin gene and a portion of the 5′ end of the alpha 1-globin gene. Sequence characterization of the resultant aberrant truncated alpha 1-globin gene from the proband showed a 27 nucleotide duplication corresponding to the 3′ end of the alpha-globin gene IVS-2 region separated by the insertion of a tetranucleotide (GGTT), suggesting that this deletion is caused by an illegitimate recombination event.

Rapid diagnosis of β-thalassaemia by mutagenically separated polymerase chain reaction (MS-PCR) and its application to prenatal diagnosis

1995 ◽  
Vol 91 (3) ◽  
pp. 602-607 ◽  
Author(s):  
Jan-Gowth Chang ◽  
Jan-Ming Lu ◽  
Jenp-Ming Huang ◽  
Jung-Te Chen ◽  
Hsing-Jin Liu ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
Rapid Diagnosis ◽  
Chain Reaction ◽  
Polymerase Chain
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