Regional assignment of the ADA locus on 20q13.2→qter by gene dosage studies

1980 ◽  
Vol 27 (2-3) ◽  
pp. 187-189 ◽  
Author(s):  
T. Philip ◽  
G. Lenoir ◽  
M.O. Rolland ◽  
I. Philip ◽  
M. Hamet ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Regional Assignment

Confirmation of regional assignment of nucleoside phosphorylase to band 14q13 by gene-dosage studies

1979 ◽  
Vol 50 (3) ◽  
pp. 341-343 ◽  
Author(s):  
B. Dallapiccola ◽  
M. Magnani ◽  
M. Dach� ◽  
P. L. Giorgi
Keyword(s):  
Gene Dosage ◽  
Nucleoside Phosphorylase ◽  
Regional Assignment

Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E. C. 2.6.1.2) locus to 8q24.2→8qter

1988 ◽  
Vol 80 (3) ◽  
pp. 299-300 ◽  
Author(s):  
Jorge Rocha ◽  
António Amorim ◽  
Vasco M. Almeida ◽  
João P. Oliveira ◽  
Miguel Leão ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Glutamate Pyruvate Transaminase ◽  
Glutamate Pyruvate ◽  
Regional Assignment

Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies

1978 ◽  
Vol 45 (2) ◽  
pp. 167-173 ◽  
Author(s):  
Maxine Frecker ◽  
L. Dallaire ◽  
S. Robert Young ◽  
Grace C. C. Chen ◽  
Nancy E. Simpson
Keyword(s):  
Gene Dosage ◽  
Chromosome 14 ◽  
Nucleoside Phosphorylase ◽  
Regional Assignment

Evidence of a gene-dosage effect for the glucocorticoid receptor in trisomy 18 mice

1987 ◽  
Vol 116 (3_Suppl) ◽  
pp. S95-S96
Author(s):  
D. VOGLIOLO ◽  
H. WINKING ◽  
R. KNUPPEN
Keyword(s):  
Glucocorticoid Receptor ◽  
Gene Dosage ◽  
Dosage Effect ◽  
Trisomy 18 ◽  
Gene Dosage Effect

BMP15 gene dosage as a relevant X-linked determinant of ovarian development and function

2014 ◽  
Author(s):  
Raffaella Rossetti ◽  
Irene Negri ◽  
Chiara Castronovo ◽  
Palma Finelli ◽  
Luca Persani
Keyword(s):  
Ovarian Development ◽  
Gene Dosage ◽  
And Function

scholarly journals A southern analysis of Rh blood group genes: association between restriction fragment length polymorphism patterns and Rh serotypes

Blood ◽  
1994 ◽  
Vol 83 (2) ◽  
pp. 566-572 ◽  
Author(s):  
CA Hyland ◽  
LC Wolter ◽  
YW Liew ◽  
A Saul
Keyword(s):  
Restriction Fragment Length Polymorphism ◽  
Blood Group ◽  
Restriction Fragment ◽  
Length Polymorphism ◽  
Fragment Length ◽  
Fragment Length Polymorphism ◽  
Gene Dosage ◽  
Southern Analysis ◽  
Rh Blood Group ◽  
Restriction Fragment Length

Abstract Polymorphisms within the Rh blood group system have been defined by serologic agglutination methods, but have not yet been defined at the DNA level. Two closely related genes associated with the Rh D antigen and with the Rh C/c and E/e antigens have been cloned. We used a Southern analysis incorporating probes to the 5′ and 3′ regions of the Rh C, E gene and D gene to identify polymorphisms associated with Rh C/c and E/e antigens, respectively. The D gene dosage could be determined by comparing the relative intensities of the D bands with bands from the 5′ and 3′ region of the Rh C, E gene. The concordance between restriction fragment length polymorphism (RFLP) patterns and serologic phenotypes for 102 randomly selected blood donors was 100% for C, e, and D, 94.8% for c, and 94.3% for E. The data are consistent with the sequences encoding the C/c epitopes residing on the 5′ side of those for the E/e epitopes. All samples discordant for the 3′ probe and E had the cE (r″) serotype. These data show that the gene coding for the cE serotype is different in Rh-positive and -negative individuals. The study demonstrates that Rh DNA typing, including D gene dosage measurements and Rh gene haplotyping, may supplement traditional serotyping methods in transfusion medicine.

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