Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood

1998 ◽  
Vol 102 (6) ◽  
pp. 611-615 ◽  
Author(s):  
A. Watanabe ◽  
Akihiko Sekizawa ◽  
Atsushi Taguchi ◽  
Hiroshi Saito ◽  
Takumi Yanaihara ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Ornithine Transcarbamylase ◽  
Ornithine Transcarbamylase Deficiency

Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency

1989 ◽  
Vol 114 (4) ◽  
pp. 582-588 ◽  
Author(s):  
J. Edward Spence ◽  
Anne Maddalena ◽  
William E. O'Brien ◽  
Susan D. Fernbach ◽  
Mark L. Batshaw ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Dna Analysis ◽  
Ornithine Transcarbamylase ◽  
Ornithine Transcarbamylase Deficiency ◽  
Heterozygote Detection

Prenatal Diagnosis of Ornithine Transcarbamylase Deficiency with Use of DNA Polymorphisms

1986 ◽  
Vol 315 (19) ◽  
pp. 1205-1208 ◽  
Author(s):  
Joyce Fox ◽  
Adelle M. Hack ◽  
Wayne A. Fenton ◽  
Mitchell S. Golbus ◽  
Susan Winter ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ornithine Transcarbamylase ◽  
Dna Polymorphisms ◽  
Ornithine Transcarbamylase Deficiency

scholarly journals Development of a Specific Monoclonal Antibody to Detect Male Cells Expressing the RPS4Y1 Protein

2021 ◽  
Vol 22 (4) ◽  
pp. 2001
Author(s):  
Silvia Spena ◽  
Chiara Cordiglieri ◽  
Isabella Garagiola ◽  
Flora Peyvandi
Keyword(s):  
Monoclonal Antibody ◽  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Limiting Factors ◽  
Inherited Disease ◽  
Specific Monoclonal Antibody ◽  
Native Form ◽  
Fetal Cells ◽  
Non Invasive ◽  
Reliable Isolation

Hemophilia is an X-linked recessive bleeding disorder. In pregnant women carrier of hemophilia, the fetal sex can be determined by non-invasive analysis of fetal DNA circulating in the maternal blood. However, in case of a male fetus, conventional invasive procedures are required for the diagnosis of hemophilia. Fetal cells, circulating in the maternal bloodstream, are an ideal target for a safe non-invasive prenatal diagnosis. Nevertheless, the small number of cells and the lack of specific fetal markers have been the most limiting factors for their isolation. We aimed to develop monoclonal antibodies (mAbs) against the ribosomal protein RPS4Y1 expressed in male cells. By Western blotting, immunoprecipitation and immunofluorescence analyses performed on cell lysates from male human hepatoma (HepG2) and female human embryonic kidney (HEK293) we developed and characterized a specific monoclonal antibody against the native form of the male RPS4Y1 protein that can distinguish male from female cells. The availability of the RPS4Y1-targeting monoclonal antibody should facilitate the development of novel methods for the reliable isolation of male fetal cells from the maternal blood and their future use for non-invasive prenatal diagnosis of X-linked inherited disease such as hemophilia.

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