Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients.

نویسندگان

  • M F Portnoï
  • A Aboura
  • G Tachdjian
  • P Bouchard
  • D Dewailly
  • N Bourcigaux
  • R Frydman
  • Anne-Céline Reyss
  • Sophie Brisset
  • S Christin-Maitre
چکیده

BACKGROUND Premature ovarian failure (POF) is defined as amenorrhoea for more than 6 months, occurring before the age of 40, with an FSH serum level higher than 40 mIU/ml. Cytogenetically visible rearrangements of the X chromosome are associated with POF. Our hypothesis was that cryptic Xq chromosomal rearrangements could be an important etiological contributor of POF. METHODS Ninety POF women were recruited and compared to 20 control women. Peripheral blood samples were collected and metaphase chromosomes were prepared using standard cytogenetic methods. To detect Xq chromosomal micro-rearrangements, fluorescence in situ hybridization (FISH) analysis was performed using a selection of 30 bacterial artificial chromosome (BAC) and P1 artificial chromosome clones, spanning Xq13-q27. We further localized the translocation breakpoints by FISH with additional BAC clones. RESULTS Chromosomal abnormalities were identified in 8.8% of our 90 patients [one triple X, three large Xq deletions 46,X,del(X)(q22.3), 46,X,del(X)(q21.2) and 46,X,del(X)(q21.32), two balanced X;autosome translocations 46,X,t(X;1) (q21.1;q32) and 46,X,t(X;9)(q21.31;q21.2) and two Robertsonian translocations 45,XX,der(15;22)(q10;q10) and 45,XX,der(14;21)(q10;q10)]. The two Xq translocation breakpoints were among a cluster of repetitive elements without any known genes. FISH analysis did not reveal any Xq chromosomal micro-rearrangement. CONCLUSIONS Karyotyping is definitely helpful in the evaluation of POF patients. No submicroscopic chromosomal rearrangements affecting Xq region were identified. Further analysis using DNA microarrays should help delineate Xq regions involved in POF.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Inm-7: Genetic Etiologies of Premature Ovarian Failure

Premature Ovarian Failure (POF) defined as functional stop of ovaries before the age of 40. It is a common cause of infertility in women that characterized by primary or secondary amenorrhea, high gonadotropin levels and estrogen level declining in patients. Factors that reduce follicle or defect in the follicle growth stimulating mechanism defined as numerous complication factors that they can...

متن کامل

Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome.

BACKGROUND X chromosome rearrangements defined a critical region for premature ovarian failure (POF) that extended for >15 Mb in Xq. It has been shown previously that the region could be divided into two functionally distinct portions and suggested that balanced translocations interrupting its proximal part, critical region 1 (CR1), could be responsible for POF through downregulation of ovary e...

متن کامل

Premature Ovarian Failure: A Critical Condition in The Reproductive Potential with Various Genetic Causes

متن کامل

P-206: Genetic Variations of FSH Receptor Gene in Patients with Premature Ovarian Failure and Diminished Ovarian Reserve Referred to Royan Institute

Background: Immaturity of the ovarian follicles results in an infertility citation called Premature Ovarian Failure (POF), affecting approximately 1% of women under the age of 40. Women with this disorder go through early menopause and have high levels of gonadotropin hormones (FSH & LH). Diminished Ovarian Reserve (DOR) is another infertility disorder in which women’s ovaries have the ability ...

متن کامل

Necropsy findings in a child with FG syndrome.

at 25 years of age she had received no hormonal therapy and had experienced no menstrual bleeding. At 6 years of age she had 'Bright's disease' which resolved after several months' stay in hospital. Her general health thereafter was excellent apart from intermittent, mild peripheral oedema. Her physical examination showed a height of 155 cm, a weight of 62 kg, a blood pressure of 130/70, modera...

متن کامل

ذخیره در منابع من

ذخیره در منابع من قبلا به منابع من ذحیره شده

{@ msg_add @}


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Human reproduction

دوره 21 9  شماره 

صفحات  -

تاریخ انتشار 2006