Abstract:AIM:To analyze the clinical features of the two Usher Syndrome families USH-001 and USH-002,and screening for possible relevant USH gene map locus·METHODS:The clinical and pedigree features of USH-001,USH-002 families were analysed.The short tandem repeat markers around the 12 known USH gene map locus were screened to choose the possible relevant genes by use of the principles and methods of linkage analysis·RESULTS: The phenotypes of the family USH-001 were similar to USH-002,night blindness occurred in 10-13 years old and gradually got worse with age,visual field gradually narrowed to tubular vision,while the decline of visual acuity were not obvious,bone cell-like retinal pigmentation was found in the peripheral retina.Hearing loss in both ears occurred in childhood,it was non-progressive sensorineural hearing loss,with mainly high-frequency hearing loss and normal vestibular function.Their clinical manifestations were consistent with the diagnosis of USH-002.The phenotype did not consecutively transmit.In USH-001 family all the patients shared the same Allele of D11S902 and D17S785 short tandem repeat markers,and all the patients in USH-002 family shared the same Allele of D1S425and D9S1776 markers·CONCLUSION: USH-001 and USH-002 are USH2 families and their genetic forms are autosomal recessive.USH1C and USH1G are likely pathogenic genes for USH-001 family,USH2A and USH2D are likely pathogenic genes for USH-002 family.
