Faculty Opinions recommendation of Allelic recombination and de novo deletions in sperm in the human beta-globin gene region.

2006 ◽  
Author(s):  
Molly Przeworski
Keyword(s):  
De Novo ◽  
Globin Gene ◽  
Gene Region ◽  
Beta Globin ◽  
Beta Globin Gene

scholarly journals The gamma-delta-beta-globin gene region in G gamma-beta +-hereditary persistence of fetal hemoglobin

Blood ◽  
1982 ◽  
Vol 59 (4) ◽  
pp. 828-831
Author(s):  
JF Balsley ◽  
E Rappaport ◽  
E Schwartz ◽  
S Surrey
Keyword(s):  
Globin Gene ◽  
Blot Hybridization ◽  
Fetal Hemoglobin ◽  
Restriction Enzymes ◽  
Restriction Endonuclease Analysis ◽  
Gene Region ◽  
Beta Globin ◽  
Gamma Delta ◽  
Beta Globin Gene ◽  
Hereditary Persistence

We report restriction endonuclease analysis of the gamma-delta-beta- globin gene region in a mother and child heterozygous for G gamma-beta +-hereditary persistence of fetal hemoglobin (HPFH). The affected chromosome in these persons directs the production of G gamma-chains and beta-chains but not A gamma-chains. DNA was digested with several restriction enzymes and was examined for gamma, delta, beta sequences by blot hybridization. Only normal digestion fragments were present. By sensitive methods, we were unable to detect a deletion in the entire gamma-delta-beta-globin gene region of the affected chromosome, indicating that in this family, G gamma-beta +-HPFH is not due to a large deletion.

scholarly journals First de novo mutations in the protein C gene of two patients with type I deficiency: a missense mutation and a splice site deletion

Blood ◽  
1994 ◽  
Vol 84 (8) ◽  
pp. 2566-2570 ◽  
Author(s):  
S Gandrille ◽  
B Jude ◽  
M Alhenc-Gelas ◽  
J Emmerich ◽  
M Aiach
Keyword(s):  
Splice Site ◽  
Protein C ◽  
Tandem Repeats ◽  
De Novo ◽  
Globin Gene ◽  
Type I ◽  
Beta Globin ◽  
De Novo Mutations ◽  
Protein C Deficiency ◽  
Beta Globin Gene

Abstract In a series of 40 patients with symptomatic protein C deficiency, we identified two sporadic cases with novel mutations that probably affect gene expression. The mutations, a 5-bp deletion of the donor splice site of intron f (nucleotides 3455 to 3459) and a mutation of nucleotide 8523 in exon IX leading to the substitution of Ser 270 by Pro, were not found in the protein C gene of the patients' parents. Transmission of the paternal and maternal protein C alleles was apparently normal on the basis of frequent polymorphisms in exons I, VI, and VIII. We also checked the transmission of the chromosomal material by analyzing the beta-globin gene frameworks and three variable number of tandem repeats (VNTRs). By combining the results of intragenic polymorphism, VNTR and beta-globin gene framework analyses, we were able to exclude nonpaternity and confirm the de novo origin of the mutation.

scholarly journals First de novo mutations in the protein C gene of two patients with type I deficiency: a missense mutation and a splice site deletion

Blood ◽  
1994 ◽  
Vol 84 (8) ◽  
pp. 2566-2570
Author(s):  
S Gandrille ◽  
B Jude ◽  
M Alhenc-Gelas ◽  
J Emmerich ◽  
M Aiach
Keyword(s):  
Splice Site ◽  
Protein C ◽  
Tandem Repeats ◽  
De Novo ◽  
Globin Gene ◽  
Type I ◽  
Beta Globin ◽  
De Novo Mutations ◽  
Protein C Deficiency ◽  
Beta Globin Gene

In a series of 40 patients with symptomatic protein C deficiency, we identified two sporadic cases with novel mutations that probably affect gene expression. The mutations, a 5-bp deletion of the donor splice site of intron f (nucleotides 3455 to 3459) and a mutation of nucleotide 8523 in exon IX leading to the substitution of Ser 270 by Pro, were not found in the protein C gene of the patients' parents. Transmission of the paternal and maternal protein C alleles was apparently normal on the basis of frequent polymorphisms in exons I, VI, and VIII. We also checked the transmission of the chromosomal material by analyzing the beta-globin gene frameworks and three variable number of tandem repeats (VNTRs). By combining the results of intragenic polymorphism, VNTR and beta-globin gene framework analyses, we were able to exclude nonpaternity and confirm the de novo origin of the mutation.

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