מתוך medicontext.co.il
WESTPORT, CT (Reuters Health) – While it is often assumed that there is a genetic basis for unexplained recurrent pregnancy loss, no causative genes have ever been identified. However, a recent report suggests that many affected women carry an X-linked lethal recessive trait that may lead to the selective loss of male offspring.
Dr. Eric P. Hoffman, from Children's National Medical Center in Washington, and colleagues studied the X chromosome inactivation patterns of 105 women with idiopathic recurrent pregnancy loss and of 101 women with a single successful pregnancy and no history of pregnancy loss. By studying these patterns, the researchers were able to identify women who were likely to be carriers of X-linked lethal recessive traits.
About 14% of cases showed highly skewed X inactivation, suggesting that they were likely to be lethal trait carriers, while only 1% of controls demonstrated inactivation patterns suggestive of this, the researchers state. Of the live-born offspring of cases with X inactivation, about 70% were female, significantly different from the 1:1 gender ratio in the general population. In addition, four of six case families analyzed demonstrated maternal inheritance of the X chromosome inactivation trait.
The findings indicate that female carriers of X-linked lethal recessive traits have an elevated spontaneous abortion risk that can be determined by testing for X inactivation, the authors note in the September issue of the American Journal of Obstetrics and Gynecology. Furthermore, the inactivation assay is relatively simple and inexpensive, and it provides important information for fertility counseling.
"Future efforts will be directed toward the ascertainment of extended pedigrees that segregate skewed X chromosome inactivation and recurrent pregnancy loss," Dr. Hoffman's team states. "In this way, through linkage and positional cloning methods, the specific X-linked genes that cause pregnancy loss will be identified."
e-Med Tools
קצר קולע וממוקד
e-Med סמינרים
אי-מד תחקירים
Medscape Tools
Journal Club
מרכזי מידע ושירות
Facebook
מידע למפרסם
מאגר תרופות
מאגר אנשי המקצוע
אינדקס שימושי
חדשות משה"ב
eMed HealthClub
מחקרים קליניים
השאירו תגובה
רוצה להצטרף לדיון?תרגישו חופשי לתרום!