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Updated: Aug 22, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Genetic analysis of varicose vein of lower extremities]
1Provincial Hospital of Shandong, Jinan, Shandong, 250021 P. R. China. chenhong gou@mailcity.com
Objective:
To make a hereditary analysis of varicose vein of lower extremities(VVLE), including hereditary pattern, sex ratio and the transmitted expression male and female of varicose vein of lower extremities.
Methods:
The ascertainment probability was estimated according to Weinberg's proband method. The value of segregation ratio P and proportion of sporadic cases X were estimated by the maximum likelihood score method. The calculations were performed using computer program of segregation analysis. The VVLE cases were random samples from inpatients and outpatients of the authors' hospital from 1991 to 1996.
Results:
There were 68 pedigrees including 80 nuclear families in 3 different mating types:UAU, UAA and AAA. UAU, UAA and AAA were analysed together. UAA and UAU (multiplex families) were analysed respectively. All the values were compatible with autosomal dominant inheritance of incomplete penetrance; the penetrance frequencies were 91.94%, 78.14% and 69. 92% respectively. The proportion of X was 24.32%. The UAU was compatible with autosomal recessive inheritance; the proportion of sporadic cases was 36.75%.
Conclusion:
VVLE is compatible with autosomal dominant and recessive inheritance. The sex ratio of male:female is 2.39:1. The transmission is possible from male and female to male and female both.
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