Avtor/Urednik		Harris, SE; Chand, AL; Winship, IM; Geršak, K; Aittomaeki, K; Shelling, AN
Naslov		Identification of novel mutations in FOXL2 associated with premature ovarian failure
Tip		članek
Vir		Mol Hum Reprod
Vol. in št.		Letnik 8, št. 8
Leto izdaje		2002
Obseg		str. 729-33
Jezik		eng
Abstrakt		Premature ovarian failure (POF) affects -1 % of women and is known to be caused by sex chromosome abnormalities, iatrogenic agents and autoimmune diseases, but in the majority of cases the cause is unknown. However, several families have been identified as having an inherited predisposition to POF, suggesting a genetic component to the condition in these cases. The FOXL2 gene of 70 POF patients from New Zealand and Slovenia was screened for mutations. In a Slovenian POF patient, a novel 30 bp deletion was identified that was predicted to remove 10 out of 14 alanines (A221 A230de1), from the polyalanine tract downstream of the winged helix/forkhead domain of the FOXI2 protein. A novel single nucleotide substitution, 772 (1009)T% A, which is predicted to change amino acid 258 from tyrosine to asparagine (Y258N), was identified in a New Zealand POF patient. Neither mutation was identified in 200 normal control chromosomes from 100 control samples. 'Three previously unreported single nucleotide substitutions, considered to be non-functional polymorphisms, were also identified.
Deskriptorji		OVARIAN FAILURE, PREMATURE INFERTILITY, FEMALE MUTATION POLYMERASE CHAIN REACTION SEQUENCE ANALYSIS, DNA POLYMORPHISM, RESTRICTION FRAGMENT LENGTH NEW ZEALAND SLOVENIA