Search

The mediocre outcome of microsurgery results in patients with extensive tubal disease was the original driving force behind the search for new methods to assist these infertile patients. Many unsuccessful attempts were carried out before the birth of the first in vitro fertilization baby in Europe 40 years ago. Many pioneers worked tirelessly to develop the tools, procedures, and research necessary. Thanks to the efforts of many, the field of reproductive medicine has grown, advanced, and progressed in ways that seemed nearly impossible just a few decades ago. [ABSTRACT FROM AUTHOR]

The heterozygote frequency of Gaucher disease (GD) and Tay-Sachs disease (TSD) is distinctly high among Ashkenazi Jews (1:29 for TSD and 1:16 for GD). Two main theories have been suggested to explain this high occurrence: a founder effect with subsequent genetic drift, and a selective advantage of heterozygotes. We compared the frequency of the GD most common mutation (1226A→G) among carriers of the common TSD mutation (+1277 TATC) with the frequency of this mutation in the general Ashkenazi population. The frequency of GD carriers among 308 TSD heterozygotes was 1:28 which is about half the expected (P = 0.03). These results indicate that carriers of both diseases do not possess additional evolutionary advantage over single mutation carriers. A reasonable interpretation of these findings is that one or both mutations have arisen relatively recently in different regions of Europe and have not yet reached genetic equilibrium. [ABSTRACT FROM AUTHOR]