By continuing our cytogenetic and epidemiolgic survey of spontaneous abortions and their parents we will determine (1) the parental origin of trisomies, triploids and structural rearrangements; (2) the contribution of parental mosaicism to repeated abortions; (3) the correlation between mitotic and meiotic aneuploidy; (4) the effect of parental age, socio-economic status, ABO blood group incompatibility and aspects of maternal health on the etiology of both chromosomally normal and abnormal spontaneous abortions; (5) the utility of reproductive history in predicting the outcome of future pregnancies, specifically in identifying couples at risk of having trisomic conceptions and we will (6) monitor the population for exposure to any mutagens or teratogens associated with altered patterns of fetal wastage. These studies are all directed at understanding the etiology of chromosome aberrations, one of the most important causes of pregnancy wastage and mental and physical abnormalities in our species. By continuing our studies of mentally retarded individuals and their families we will determine (7) the incidence of the mar(X) syndrome in an unselected population of mentally retarded children in Hawaii; (8) the genetics of the mar(X) syndrome with special reference to mutation rate, segregation pattern, relationship of the mar(X) to age and mental retardation and the relationship between late and early replicating mar(X) chromosomes and mental impairment in heterozygotes and (9) the narute of the cytogenetic marker. We will also (10) establish norms for testicular size for Caucasian and Japanese males in the Hawaiian population and determine the contribution of Y-linked genes to any observed differences. These studies are designed to further our understanding of the mar(X) syndrome, an important cause of mental retardation in both males and females and one which is associated with a unique, but little understood, cytogenetic aberration

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
5R01HD021341-05
Application #
3320217
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1988-01-01
Project End
1990-06-30
Budget Start
1988-07-01
Budget End
1990-06-30
Support Year
5
Fiscal Year
1988
Total Cost
Indirect Cost
Name
Emory University
Department
Type
Schools of Medicine
DUNS #
042250712
City
Atlanta
State
GA
Country
United States
Zip Code
30322
Vandenberg, Laura N; Gerona, Roy R; Kannan, Kurunthachalam et al. (2016) Erratum to: A round robin approach to the analysis of bisphenol a (BPA) in human blood samples. Environ Health 15:43
Hardy, Kathy; Hardy, Philip J; Jacobs, Patricia A et al. (2016) Temporal changes in chromosome abnormalities in human spontaneous abortions: Results of 40 years of analysis. Am J Med Genet A 170:2671-80
Gerona, Roy R; Pan, Janet; Zota, Ami R et al. (2016) Direct measurement of Bisphenol A (BPA), BPA glucuronide and BPA sulfate in a diverse and low-income population of pregnant women reveals high exposure, with potential implications for previous exposure estimates: a cross-sectional study. Environ Health 15:50
Vrooman, Lisa A; Oatley, Jon M; Griswold, Jodi E et al. (2015) Estrogenic exposure alters the spermatogonial stem cells in the developing testis, permanently reducing crossover levels in the adult. PLoS Genet 11:e1004949
Rowsey, Ross; Gruhn, Jennifer; Broman, Karl W et al. (2014) Examining variation in recombination levels in the human female: a test of the production-line hypothesis. Am J Hum Genet 95:108-12
Vandenberg, Laura N; Gerona, Roy R; Kannan, Kurunthachalam et al. (2014) A round robin approach to the analysis of bisphenol A (BPA) in human blood samples. Environ Health 13:25
Vrooman, Lisa A; Nagaoka, So I; Hassold, Terry J et al. (2014) Evidence for paternal age-related alterations in meiotic chromosome dynamics in the mouse. Genetics 196:385-96
Baier, Brian; Hunt, Patricia; Broman, Karl W et al. (2014) Variation in genome-wide levels of meiotic recombination is established at the onset of prophase in mammalian males. PLoS Genet 10:e1004125
Gruhn, Jennifer R; Rubio, Carmen; Broman, Karl W et al. (2013) Cytological studies of human meiosis: sex-specific differences in recombination originate at, or prior to, establishment of double-strand breaks. PLoS One 8:e85075
Rowsey, Ross; Kashevarova, Anna; Murdoch, Brenda et al. (2013) Germline mosaicism does not explain the maternal age effect on trisomy. Am J Med Genet A 161A:2495-503

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