The relatively high penetrance estimate in GBA carriers obtained in this study should lead to consideration of GBA as a dominant causal gene with reduced penetrance and should be taken into account for genetic counseling in relatives of patients with GD and patients with GBA-associated PD.

SUMMARYSheep from the Soay, Finnish Landrace, Southdown and Oxford Down breeds were serially slaughtered at about 40, 50, 60 and 70% of their estimated mature body weight. Breed and sex comparisons were made at these degrees of maturity. Large differences were found in the weight of muscle, fat and bone, total muscle ranging from a mean of 3·3 kg in the Soay to 13·0 kg in the Oxford Down; the corresponding range for dissected fat was 1·2 to 9·2 kg.Most of the breed and sex differences observed at the same degree of maturity disappeared when expressed as a percentage of body or carcass weight. Thus both sexes had almost the same body and carcass composition in terms of fat, muscle and bone percentage. There were breed differences in fat percentage, with the Soay significantly less fat than the other breeds. Total muscle as a percentage of body weight was remarkably close to 28·5% in all breeds in both sexes, and at all four stages of maturity.

Three methods are proposed to validate the estimation of genetic trend for dairy cattle. With the first method, official evaluations, which are generally derived from a repeatability animal model applied to lactation records from several parities, are compared with evaluations based only on first parity to determine whether estimates of genetic trend are similar. With the second method, daughter yield deviations are analyzed within sire by calving year to determine whether these deviations remain stable over time. With the third method, variations of successive official evaluations are analyzed by regression to determine any systematic trend associated with information from additional daughters. Access to raw data is needed for the first two methods, but only published evaluations are needed for the third method. The three methods were applied to French Holstein evaluations calculated with 1990 and 1993 animal models and validated estimates of genetic trend based on information from the 1993 animal model.

No abstract

The Val30Met transthyretin familial amyloid polyneuropathy (TTR-V30M-FAP) is the most frequent familial amyloidosis, with autosomal dominant transmission. This severe disease shows important differences in age of onset and penetrance. Recently, a difference in penetrance according to the gender of the transmitting parent was elicited in different geographic areas with a higher penetrance in case of maternal transmission of the trait. In addition, differences in mitochondrial haplogroup distribution in early and late onset Swedish and French cases of TTR-V30M-FAP suggested that a polymorphism of mitochondrial DNA could be one underlying mechanism of the phenotypic variation. We further investigated this hypothesis by modeling the penetrance function with a parent-of-origin and/or a mitochondrial polymorphism effect in samples of Portuguese (n¼33) and Swedish families (n¼86) with TTR-V30M-FAP in which several individuals had been tested for mitochondrial haplogroups. Our analysis showed that a mitochondrial polymorphism effect was sufficient to explain the observed difference in penetrance according to gender of the transmitting parent in the Portuguese sample, whereas, in the Swedish sample, a clear residual parent-of-origin effect remained. This study further supported the role of a mitochondrial polymorphism effect that might induce a higher penetrance in case of maternal inheritance of the disease. In clinical practice, these results might help to better delineate the individual disease risk and have a significant impact on the management of both patients and carriers.