Skewed secondary sex ratio in the offspring of carriers of the 214GA mutation of the RS1 gene

Autor:	L, Huopaniemi, J, Fellman, A, Rantala, A, Eriksson, H, Forsius, A, De La Chapelle, T, Alitalo
Rok vydání:	1999
Předmět:	Male Heterozygote X Chromosome Genetic Linkage Reverse Transcriptase Polymerase Chain Reaction Retinal Degeneration Uterus Gene Expression Pedigree Pregnancy Receptors Androgen Case-Control Studies Dosage Compensation Genetic Humans Point Mutation Female Sex Ratio Finland
Zdroj:	Annals of human genetics. 63(Pt 6)
ISSN:	0003-4800
Popis:	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 214GA 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::35e0f8668cdef80b7730b934b7be222c https://pubmed.ncbi.nlm.nih.gov/11246454 Zobrazit plný text záznamu Plný text