Skip to main content Accessibility help
×
Home

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

  • L. HUOPANIEMI (a1) (a2), J. FELLMAN (a3), A. RANTALA (a1) (a2), A. ERIKSSON (a3), H. FORSIUS (a3), A. DE LA CHAPELLE (a2) (a4) and T. ALITALO (a1) (a2) (a5)...

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.

Copyright

Corresponding author

Correspondence: Tiina Alitalo, Ph.D., Helsinki University, Central Hospital, Departments of Gynecology and Obstetrics, Prenatal Genetics, Haartmaninkatu 2, Helsinki 00029 HYKS, Finland. Tel: +358-9-471 73602; Fax: +358-9-471 74906 and +358-9-6158 5632. E-mail: Tiina.Alitalo@huch.fi

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

  • L. HUOPANIEMI (a1) (a2), J. FELLMAN (a3), A. RANTALA (a1) (a2), A. ERIKSSON (a3), H. FORSIUS (a3), A. DE LA CHAPELLE (a2) (a4) and T. ALITALO (a1) (a2) (a5)...

Metrics

Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed