Affected sib pair method for searching major gene in multifactorial disease

Female siblings with Pendred's syndrome were admitted to our clinic. The abnormality of the acoustic structure was examined by MRI. Bilateral enlargement of the vestibular aqueduct and a prominently marked endolymphatic sac were found on MRI. These findings seemed likely to represent a Mondini deformity. Acoustic structure in Pendred's syndrome was examined here by MRIfor the first time. Weexamined their HLA-DRlocus as a genetic marker using the affected sibpair method preliminary. HLAtyping might be a diagnostic criteria of Pendred's syndrome, although the present siblings possessed 2 HLAgenes in common.

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Affected sib pair method for searching major gene in multifactorial disease

Cited by 2 publications

References 14 publications

Complex segregation analysis for two-locus model: Autosomal double recessive

Complex segregation analysis for two-locus model: Autosomal double recessive

Female Siblings with Pendred's Syndrome.

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