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A two-locus model for non-syndromic congenital dysplasia of the hip (CDH)

Published online by Cambridge University Press:  01 January 2000

V. SOLLAZZO
Affiliation:
Dip. Scienze Biomediche e Terapie Avanzate (sez. Clinica ortopedica)-Università di Ferrara
G. BERTOLANI
Affiliation:
Dip. Scienze Biomediche e Terapie Avanzate (sez. Clinica ortopedica)-Università di Ferrara
E. CALZOLARI
Affiliation:
Dip. di Medicina Sperimentale e Diagnostica (sez. Genetica medica) – Università di Ferrara
G. ATTI
Affiliation:
Divisione Pediatrica – Arcispedale Sant'Anna
C. SCAPOLI
Affiliation:
Dipartimento di Biologia – Università di Ferrara
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Abstract

Complex segregation analysis was conducted in a sample of 171 pedigrees collected through probands affected by non-syndromic dysplasia of the hip (CDH) treated in Ferrara's CDH Centre in the period 1991–6. The analysis favoured a two-locus model, in which the accepted segregation model at the major locus was compatible with recessive transmission, with a gene frequency of the deleterious allele of around 0.20. For the other locus, among the Mendelian hypotheses tested, the recessive model turned out to be the most parsimonious. When ultrasonographic level was examined as an indication of severity, a significant improvement in the fit of the model was observed, giving clear evidence that information on the severity of CDH is important for a better definition of the hereditary transmission model.

Type
Research Article
Copyright
© University College London 2000

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