Investigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian failure

BACKGROUND: Spontaneous premature ovarian failure presents most commonly with secondary amenorrhea. Young women with the disorder are infertile and experience the symptoms and sequelae of estrogen deficiency. The mechanisms that give rise to spontaneous premature ovarian failure are largely unknown, but many reports suggest a genetic mechanism in some cases. The small family size associated with infertility makes genetic linkage analysis studies extremely difficult. Another approach that has proven successful has been to examine candidate genes based on known genetic phenotypes in other species. Studies in mice have demonstrated that c-kit, a transmembrane tyrosine kinase receptor, plays a critical role in gametogenesis. Here we test the hypothesis that human KIT mutations might be a cause of spontaneous premature ovarian failure. METHODS AND RESULTS: We examined 42 women with spontaneous premature ovarian failure and found partial X monosomy in two of them. In the remaining 40 women with known 46,XX spontaneous premature ovarian failure we evaluated the entire coding region of the KIT gene. We did this using polymerase chain reaction based single-stranded conformational polymorphism analysis and DNA sequencing. We did not identify a single mutation that would alter the amino acid sequence of the c-KIT protein in any of 40 patients (upper 95% confidence limit is 7.2%). We found one silent mutation at codon 798 and two intronic polymorphisms. CONCLUSION: Mutations in the coding regions of the KIT gene appear not to be a common cause of 46,XX spontaneous premature ovarian failure in North American women

Class B monitoring program handbook for southeastern sites with data based on INIT2 software (applicable to heating season)

This document provides reference information on eight residences located in the southern part of the US which are being monitored under the Class B Passive Solar Monitoring Program. This handbook provides reference information on the sites and basic test conditions for the 1982-1983 winter heating season using software which is identified as INIT2. The manual is intended for use in data analysis work but is limited to this period of time because of basic differences in the control software and the related instrumentation system. This document is separated into individual sections for each site. The following information is provided for each site: (a) Site summary providing information on the structure, the passive solar features, the auxiliary heating system, and other related data; (b) Floor layouts with the sensor locations, etc.; (c) The One Time Value Log which records the results of field tests and calculations to determine the thermal characteristics, air infiltration rate, and other reference data; (d) The Analog/Digital Channel Log which provides calibration data; (e) The Status Channel Log which defines various event sensors; and (f) Program listings as used during the specified time periods during the heating season. Appendix A provides a summary of photographs which have been provided separately as part of the site documentation

Assessment of existing feuds data base for identification of potential industrial wood users in North Carolina

The North Carolina Wood Assistance Team's evaluation of the Ultrasystems' computerized methodology for identifying high potential wood conversion facilities is presented. The analysis, methodology, and data are found to be inadequate for the intended use