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PubMedDate not supplied

Natural transmission of AZFb Y-chromosomal microdeletion from father to his three sons.

Microdeletions of the so-called azoospermia factor (AZF) locus of the Y chromosome long arm (Yq) are an etiological factor of severe oligozoospermia or azoospermia. Patients affected are infertile unless assisted reproductive techniques are used. We report the case of an azoospermic patient (proband) and three brothers who inherited a Yq microdeletion from their father through a spontaneous pregnancy. Leukocyte DNA was extracted using a commercially available kit. A total of 15 pairs of sequence-tagged site (STSs) based primers, spanning the AZFa, b and c regions, were used for screening. All brothers and their father carried a Yq microdeletion of the AZFb subregion where the RNA-binding motif (RBM) gene is located. The proband carried additional deletions of the AZFa and AZFb subregions. RBM deletion can be associated with oligozoospermia allowing natural conception and therefore natural transmission of this genetic anomaly.

Adult↗
PubMedDate not supplied

Response to alcohol in daughters of alcoholics: a pilot study and a comparison with sons of alcoholics.

Drinking, but not alcohol-dependent, 18-29-year-old daughters of alcoholics (n = 38) from the Collaborative Study on the Genetics of Alcoholism were compared to 75 family-history-positive (FHP) men from the same families, and 68 family-history-negative (FHN) male controls. Subjects received 0.75 ml/kg of ethanol (for women), 0.9 ml/kg of ethanol (for men), and placebo, each of which was consumed over 8 min on different occasions. The breath-alcohol concentrations (BrAC) and reactions to alcohol [using the Subjective High Assessment Scale (SHAS) and body sway measures] were evaluated over 210 min. The results indicate that, despite slightly higher BrAC values for the FHP men, on the SHAS the FHP women and the FHP men demonstrated significantly lower scores than the FHN male controls, although the values for FHP men and women did not differ. On body sway, the FHP men showed evidence of less alcohol-related increases than FHN men, and there was a trend in the same direction for FHP women, but only early in the session (e.g. at 60 min). Pilot data for 11 FHN women revealed higher scores for both SHAS and body sway at 60 min, compared to FHP women, but, perhaps reflecting the small number of subjects, the family history differences were not significant. Overall, the results in FHP women resemble those for FHP men, and suggest that a low level of response to alcohol might also be a characteristic of daughters of alcoholics.

Adolescent↗
PubMed1990

Males as helpers: the role of sons, relatives, and friends.

The informal helping networks of most frail elderly people are dominated by women. Men are also involved in helping older people, although most male caregivers are husbands. This paper examines the contributions of men other than husbands who provide assistance to a sample of community-based elderly people. Data were gathered through personal interviews with elders and their primary helpers at two points in time. Male helpers provide intermittent assistance with occasional tasks but less frequently undertake routine household chores. Some evidence indicates a shift toward female caregivers as the elder's functional capacity decreases over time.

Adult↗
PubMed2000

The variation of the probability of a son within and across couples.

It is suggested that there is a flaw in the currently accepted account of the variation of P, the probability of a boy, within and across couples. It was previously suggested that P has a mean (for Caucasian couples) of approximately 0.514 with an SD of approximately 0.05 across couples: and that the variation within couples is rather less. Grounds are offered here for suspecting that this formulation underestimates both SDs by a factor of as much as 4. It is suggested that in estimating these sources of variation, earlier workers did not consider the possibility that within-couple variation might be random and substantial. In view of the established epidemiology of human sex ratios, it now seems likely that such variation exists, and that there is a substantial measure of counterbalancing across-couple variation.

Female↗