Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome

International Journal of Pediatric Otorhinolaryngology
Ivan J KeoghR D Eavey

Abstract

To undertake a comprehensive investigation into the very high incidence of congenital deafness on the Macano peninsula of Margarita Island, Venezuela. Numerous visits were made to the isolated island community over a 4-year-period. During these visits, it became apparent that a significant number of individuals complained of problems with hearing and vision. Socioeconomic assessments, family pedigrees and clinical histories were recorded on standard questionnaires. All individuals underwent thorough otolaryngologic and ophthalmologic examinations. Twenty milliliters of peripheral venous blood was obtained from each participant. A genome-wide linkage analysis study was performed. Polymorphic microsatellite markers were amplified by polymerase chain reaction and separated on polyacrylamide gels. An ABI 377XL sequencer was used to separate fragments and LOD scores were calculated by using published software. Twenty-four families were identified, comprising 329 individuals, age range 1-80 years, including 184 children. All families were categorized in the lower two (least affluent) socioeconomic categories. A high incidence of consanguinity was detected. Fifteen individuals (11 adults, 4 children) had profound congenital sensorineu...Continue Reading

References

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Citations

Nov 9, 2000·Archives of Biochemistry and Biophysics·B LevronJ L Burgot
Feb 13, 2016·Ophthalmic Genetics·Horbelys O GuzmánRené A Utrera

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