Research On A Pedigree Of Autosomal Dominant Cone Rod Dystrophy

Object Analyse a inherit retinopathy pedigree in Han Chinese,and discover its physical presentation of retina,diagnosis,and locate its causative gene and single nucleotide polymorphism(SNP)Method 1.6 affected members,including the proband,and 1 normal member of this retinopathy pedigree have been underwent thorough tests in Shanghai No.1 People’s Hospital.All the other family members have went through direct funduscope2.The proband’s exon gene has been tested by the ophthalmological genechip3.The causative candidates of all the single nucleotide polymorphisms(SNP)captured by the genechip,have been verified through the hole family members by PCR Result 1.All the patients of this pedigree have been diagnosed of CoRD;2.The mode of inheritance is autosomal dominant3.The proband has a heterozygous SNP in c.238G>A of otx-like homeodomain transcription factor(CRX),which carried only by the patients of the pedigreeConclusion This is a CRX associated adCoRD pedigree.Its mutation is at c.238G>A of CRX。...