Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier families.

Purpose: Preimplantation genetic diagnosis using fluorescence in-situ hybridization (PGD-FISH) is currently the most common reproductive solution for translocation carriers. However, this technique usually does not differentiate between embryos carrying the balanced form of the translocation and those carrying the homologous normal chromosomes. We developed a new application of preimplantation genetic haplotyping (PGH) that can identify and distinguish between all forms of the translocation status in cleavage stage embryos prior to implantation.

Patients' information needs and decision-making processes: what can be learned from genetic counselees?

This field study investigated the information needs and decision-making strategies of 161 genetic counselees interviewed just prior to counseling. Patients were interested mostly in information about the outcomes and consequences of the alternative options at their disposal and about measures to defuse the risks. They wanted mainly information stated with certainty and were less interested in probability information.

Combined genetic profiles of components and regulators of the vitamin K-dependent gamma-carboxylation system affect individual sensitivity to warfarin.

We examined the influence of combined genotypes on interindividual variability in warfarin dose-response. In 100 anticoagulated patients we quantified the effects of polymorphisms in: CYP2C9, VKORC1, calumenin (CALU), gamma-glutamyl carboxylase (GGCX) and microsomal epoxide hydrolase (EPHX1) on warfarin dose requirements. The G(1542)C VKORC1 polymorphism was associated with decreased warfarin doses in the hetero- and homozygous mutant patients (21% and 50% lower, respectively; p < 0.

The facilitating role of information provided in genetic counseling for counselees' decisions.

Purpose: To investigate genetic counselees' evaluations of the helpfulness of the information they receive in genetic counseling and of their difficulty in making decisions, and to determine correlates of these two outcomes.

Methods: A field study on 108 counselees seeking genetic counseling aimed at arriving at a reproduction-related decision. Prior to counseling, questionnaires measuring individual differences in factors expected to correlate with outcomes were administered.

CAG repeat polymorphism within the KCNN3 gene is a significant contributor to susceptibility to anorexia nervosa: a case-control study of female patients and several ethnic groups in the Israeli Jewish population.

The human small-conductance Ca(2+)-activated potassium channel gene KCNN3 has been involved in mechanisms underlying neuronal function and plasticity. A multiallelic CAG repeat polymorphism within the KCNN3 has been associated with schizophrenia and bipolar disorder. We have previously reported in a family-based study that longer CAG repeats are preferentially transmitted to patients with anorexia nervosa (AN).