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J Westlake

Publications and source records attributed to J Westlake.

6 recordsLinked to original sources
PubMed1980

C-band polymorphism: comparison between trisomy 21 cases and mentally retarded controls.

C-banding was done prospectively on 50 Down syndrome (trisomy 21) cases and 50 mentally retarded controls. Heterochromatin was quantitated by measuring the lengths of heterochromatin blocks and comparing these segments to the length of the short arm of chromosome 16 for 1, 9 and 16 heterochromatin, and to the total length of the Y chromosome for the Y heterochromatin in the distal long arm. For the first 30 individuals in each group, there was no difference in the mean lengths of C-band blocks of the 1, 9, 16 and Y chromosomes. For the total sample, there also was no difference between the trisomy 21 cases and controls in the number or size of pericentric inversions involving the heterochromatin blocks of chromosomes 1 and 9. Assuming random segregation of the parental C-band polymorphisms, this study gives no evidence for an association between such polymorphisms of the 1, 9, 16 and Y chromosomes and nondisjunction of chromosome 21.

Chromosome Banding↗
PubMed1979

Prominent acrocentric chromosome satellites in child patients with mental retardation or psychiatric disorders; no IQ-satellite size correlation.

Child patients with mental retardation or psychiatric disorders were selected for the presence of prominent acrocentric chromosome satellites and highest or lowest IQ scores. No correlation was found between IQ scores, of which eleven were below IQ 54 and 16 above IQ 68, and the length of acrocentric short arm, satellite, stalk, or short arm material below the stalk. Conventional staining, quinacrine fluorescence, C banding and ammoniacal silver staining revealed the apparent same acrocentric short arm variation between patient and one parent in eight families studied. These findings suggest that the satellite variants were truly normal variants and not etiologically related to the developmental disorders seen in the patients.

Child↗
PubMed1977

Estimation of the variance components for dermal ridge count.

Refinements of the scoring algorithm to estimate variance components from pedigree data are developed. Subsequent to these modifications, heritability estimates were readily obtained from data for over 50 traits, including total finger ridge count reported here. A significant contribution to the total variance of ridge count could be attributed to the effects of dominance, a finding not previously reported for this dermatoglyphic trait.

Analysis of Variance↗
PubMed1976

Extensions to pedigree analysis. III. Variance components by the scoring method.

The classic variance components for simple polygenic traits - additive, dominance, and environmental variance - have traditionally been estimated from sample covariances between first-degree relatives. If data is gathered on pedigrees, this statistical procedure wastes information. Recently Elston & Stewart suggested an alternative likelihood procedure that uses all the information in a set of pedigrees. A refinement of their method based on the scoring technique gives rapidly converging maximum likelihood estimates of the variance components and of the male and female means. Tests of statistical hypotheses about the various parameters can then be made by the likelihood ratio method. Furthermore, using classical regression analysis, the estimated parameter values allow prediction of unknown trait values from known trait values within a pedigree. These methods should apply to traits like total finger ridge count and to quantitative measurements associated with disease traits. Since the model postulates independent environmental effects and no assortative mating, its utility in human behaviour genetics seems limited.

Female↗
PubMed1976

Estimation of polygenic recurrence risk for cleft lip and palate.

Data on cleft lip with or without cleft palate are utilized to evaluate a new method for estimating recurrence risk under the polygenic threshold model. The influence of critical factors on the accuracy of the estimated risks are evaluated. The model is relatively sensitive to the estimate of heritability employed and relatively robust to the population prevalence estimate and to family size. The calculated risks for cleft lip with or without cleft palate are contrasted with the empiric figures from studies on Caucasians and Japanese populations.

Cleft Lip↗