Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26.

Endometriosis is a common gynecological disease that affects up to 10% of women in their reproductive years. It causes pelvic pain, severe dysmenorrhea, and subfertility. The disease is defined as the presence of tissue resembling endometrium in sites outside the uterus.

The International Endogene Study: a collection of families for genetic research in endometriosis.

Objective: The aim of the International Endogene Study is to discover genes that influence susceptibility to endometriosis.

Design: The study brings together two research groups based in Australia and the United Kingdom that independently have been collecting families for linkage analysis and candidate gene studies. Both groups used similar methods to recruit families, obtain clinical notes, assign disease status based on the operative records and available histology, and collect common clinical data including age at onset of symptoms, age at diagnosis, and symptoms experienced.

Misclassification due to body hair and seasonal variation on melanin density estimates for skin type using spectrophotometry.

Recent advances have enabled quite accurate estimations of cutaneous melanin density by spectrophotometry using reflectance of light at wavelengths 400 and 420 nm. Our purpose was to assess the effect of body hair and seasonal variation at the upper inner arm and buttock on measurements of melanin density. We estimated melanin density of 104 volunteers at 3-monthly intervals over 12 months both before and after shaving.

Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis.

Association of multiple sclerosis (MS) with the human leukocyte antigen (HLA) class II haplotype DRB1*1501-DQB1*0602 is the most consistently replicated finding of genetic studies of the disease. However, the high level of linkage disequilibrium (LD) in the HLA region has hindered the identification of other loci that single-marker tests for association are unlikely to resolve. In order to address this issue, we generated haplotypes spanning 14.

Needs assessment study of genetics education for general practitioners in Australia.

Purpose: Because of the explosion of genetic information resulting from the Human Genome Project and other developments in genetics and genetic technologies, primary care practitioners in Australia will be expected to have a much greater role in the practice of genetic medicine; however, little is published regarding their knowledge and attitudes to genetics, technologies, or genetics education. This study aimed to determine the genetics knowledge and educational needs of general practitioners (GPs) in Victoria, Australia, and their experiences in dealing with genetics in their practices.

Methods: Qualitative research methods were used primarily to obtain data from focus groups, interviews, and a limited survey.

Regional variation in multiple sclerosis prevalence in Australia and its association with ambient ultraviolet radiation.

The aim of this study was to conduct an ecological analysis of the extent to which ultraviolet radiation (UVR) levels might explain the regional variation of multiple sclerosis (MS) in Australia. MS prevalence data for six Australian regions were compared with UVR levels of the largest city in each region, with some other climatic variables and with the melanoma incidence in the same regions. A close association was found between the theoretical MS prevalence predicted from UVR levels and the actual prevalence.

Complete primary structure, chromosomal localisation, and definition of polymorphisms of the gene encoding the human interleukin-12 p40 subunit.

Owing to the importance of interleukin (IL)-12 in regulating immune responses, we have determined the complete genomic sequence and organization of the gene encoding its p40 subunit. The genomic sequence was determined and was compared to cDNA sequences to derive exon/intron boundaries. Unusually, both the first and last of the eight exons of this gene are not translated.

Genetics of early cancer detection behaviours in Australian female twins.

Early detection of cervical and breast cancers is an important component of women's health strategy. Screening programmes, health professional interventions and preventive behaviours such as breast self-examination provide the means to this end. Our twin study sought to identify the relative influence of environmental and genetic factors on liability to early cancer detection behaviours, including use of cervical smear tests, mammograms, and breast examination.

Predictors of hysterectomy: an Australian study.

Objective: We evaluated the relative importance of predictors of hysterectomy.

Study Design: A questionnaire survey of an Australia-wide sample of adult female twins was conducted; self-report data were validated against reports from treating physicians.

Results: A total of 3096 women (94%) and 366 physicians (87%) responded.

Genetic influences on endometriosis in an Australian twin sample. sueT@qimr.edu.au.

Objective: To investigate the prevalence of and twin pair concordance for endometriosis.

Design: A questionnaire survey incorporating validation.

Setting: An Australia-wide volunteer sample of female monozygotic (MZ) and dizygotic (DZ) twin pairs from the Australian National Health and Medical Research Council Twin Register.