PMID- 15378546
OWN - NLM
STAT- MEDLINE
DCOM- 20050208
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 130A
IP  - 3
DP  - 2004 Oct 15
TI  - Genetic significance of skewed X-chromosome inactivation in premature ovarian 
      failure.
PG  - 240-4
AB  - To determine the relationship between premature ovarian failure (POF) and skewed 
      X-chromosome inactivation (XCI), karyotype, and XCI status in 43 patients with 
      POF (group I) and 43 age-matched control women with regular menstrual cycles 
      (group II) were evaluated. Evaluation of XCI status was based on the CAG triplet 
      repeat polymorphism assay in the androgen receptor gene after sodium bisulfite 
      treatment of DNA samples, and XCI patterns were classified as random (XCI < 70% 
      skewing) or skewed (> or =70%). Furthermore, skewed XCI was classified under 
      three different thresholds (> or =70, > or =80, or > or =90%). Karyotyping by 
      G-banding and fluorescence in situ hybridization (FISH) on peripheral blood 
      lymphocytes showed that one patient in group I had a deletion of Xq22, and 
      another was 47,XXX. The frequency of low-level 45,X/46,XX mosaicism was nearly 
      equal in both groups. In women without any X-chromosomal aberrations, the 
      incidence of skewed XCI in group I was significantly higher than in group II on 
      all threshold levels. Furthermore, extremely skewed XCI (> or =90%) was observed 
      only in group I. These results indicate that POF may be caused by some underlying 
      genetic disorders, which may induce skewed XCI.
FAU - Sato, Kazuyo
AU  - Sato K
AD  - Department of Obstetrics and Gynecology, Tohoku University Graduate School of 
      Medicine, Sendai, Japan. kazusato@ob-gy.med.tohoku.ac.jp
FAU - Uehara, Shigeki
AU  - Uehara S
FAU - Hashiyada, Masaki
AU  - Hashiyada M
FAU - Nabeshima, Hiroshi
AU  - Nabeshima H
FAU - Sugawara, Jun-Ichi
AU  - Sugawara J
FAU - Terada, Yukihiro
AU  - Terada Y
FAU - Yaegashi, Nobuo
AU  - Yaegashi N
FAU - Okamura, Kunihiro
AU  - Okamura K
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
CIN - Am J Med Genet A. 2006 Jun 15;140(12):1349-51. PMID: 16691602
MH  - Adult
MH  - Aged
MH  - Chromosomes, Human, X/*genetics
MH  - *Dosage Compensation, Genetic
MH  - Female
MH  - Humans
MH  - Karyotyping
MH  - Middle Aged
MH  - Primary Ovarian Insufficiency/*genetics/pathology
MH  - Sex Chromosome Aberrations
EDAT- 2004/09/21 05:00
MHDA- 2005/02/09 09:00
CRDT- 2004/09/21 05:00
PHST- 2004/09/21 05:00 [pubmed]
PHST- 2005/02/09 09:00 [medline]
PHST- 2004/09/21 05:00 [entrez]
AID - 10.1002/ajmg.a.30256 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Oct 15;130A(3):240-4. doi: 10.1002/ajmg.a.30256.