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Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene

Published online by Cambridge University Press:  01 November 1999

L. HUOPANIEMI ,
J. FELLMAN ,
A. RANTALA ,
A. ERIKSSON ,
H. FORSIUS ,
A. DE LA CHAPELLE  and
T. ALITALO
L. HUOPANIEMI
Affiliation:
Department of Medical Genetics, University of Helsinki, Helsinki, Finland The Folkhalsan Institute of Genetics, Department of Molecular Genetics, Helsinki, Finland
J. FELLMAN
Affiliation:
The Folkhalsan Institute of Genetics, Population Genetics Unit, Helsinki, Finland
A. RANTALA
Affiliation:
Department of Medical Genetics, University of Helsinki, Helsinki, Finland The Folkhalsan Institute of Genetics, Department of Molecular Genetics, Helsinki, Finland
A. ERIKSSON
Affiliation:
The Folkhalsan Institute of Genetics, Population Genetics Unit, Helsinki, Finland
H. FORSIUS
Affiliation:
The Folkhalsan Institute of Genetics, Population Genetics Unit, Helsinki, Finland
A. DE LA CHAPELLE
Affiliation:
The Folkhalsan Institute of Genetics, Department of Molecular Genetics, Helsinki, Finland Comprehensive Cancer Center, Ohio State University, Ohio, USA
T. ALITALO
Affiliation:
Department of Medical Genetics, University of Helsinki, Helsinki, Finland The Folkhalsan Institute of Genetics, Department of Molecular Genetics, Helsinki, Finland Departments of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
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Abstract

Carriers of X-linked juvenile retinoschisis (RS) were previously suggested to give birth to an excess of boys. We determined the carrier status for the 214G > A mutation of the RS1 gene in 202 females belonging to a large RS founder pedigree. The secondary sex ratio (SSR) in the offspring of 149 carriers was 129.8 (z = 2.25), which differed significantly from that of the Finnish population (SSR 106) but not from that of 53 non-carrier females belonging to the same pedigree (SSR 116.7; z = 0.51). Since possible causes for the skewed SSR include factors affecting fertilisation, implantation and embryonic death, we searched for expression of RS1 in various placental and uterine cells and found that, in addition to the retina, RS1 is expressed in the uterus. We hypothesize that the RS1 protein has a role in implantation or embryonic survival.

Type
Research Article
Information
Annals of Human Genetics , Volume 63 , Issue 6 , November 1999 , pp. 521 - 533
Copyright
© University College London 1999

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