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Since many disorders have a variable age at onset, knowing the age at onset distribution of a disease facilitates epidemiologic analyses in several ways. The age at onset distribution is commonly used to estimate morbidity risks or the recurrence risks in genetic counseling. Unfortunately,...
The admixture test for the detection of linkage under heterogeneity is considered. We show that the null distribution of this test statistic has half its weight concentrated on zero and the other half on a complicated distribution that can be approximated by max (X1, X 2 ) where X1 and X2 are...
We have previously reported a large Israili‐Arab pedigree with sensorineural deafness possibly determined simultaneously by two loci‐one mitochondrial, and one autosomal recessive. This was analyzed by extending classic segregation analysis methods to the many nuclear families derived from...
This paper discusses the application of estimating equations methods based on a quadratic exponential model (Prentice and Zhao, 1991) as a potential competitor with full likelihood approaches to estimating the effect of major genes in a segregation analysis (Elston, 1981) of continuous...
Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is a disorder that has an elevated frequency in Saguenay‐Lac‐St‐Jean (SLSJ) and Charlevoix, two geographically isolated regions in the past of northeastern Quebec. The incidence at birth and the carrier rate in SLSJ were...
Several studies raise the possibility that smoking during pregnancy is associated with a slightly decreased odds of trisomy 21 at birth. If it is, associations may reflect decreased incidence at conception, increased intrauterine loss (at one or several times in gestation), or both. Women ( n =...
Allelic variation at the apolipoprotien E (Apo E) structural locus has been shown to influence concentrations of total cholesterol and low density lipoprotein cholesterol (LDL‐C). Apo E has six phenotypes resulting from three common alleles at this locus. The &epsis;2 allele is associated with...
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