The Analysis Of Clinical Characters And Inheritance Characters About Two Darier's Disease Families In Xin-jiang

Objective: To summarize and analyze the clinical characters,the mode of inheritance and the gene mutation situation of exon 2,3,5,7,8,10,11,12,13,14,15,19,20 in two xinjiang genealogies.To study the clinical characters,the mode of inheritance,the mechanism of molecule genetics and the collectment and conservement of human inheritance resource have a certainty signification.To provide thereunder for the DD's diaqnosticate and treatment. Methods: (1) To the proband of xinjiang DD's two genealogies have making detailed asking,medical examination and pathology examination, clinical data of other patients were collected (sex,age,nation,sick age,clinical exhibition,treated effection ), clinical features were summarized and analyzed,the vein blood of patients and natural folks.(2) The two genealogies patterns were mapped by the format sign of internation currentment and the mode of inheritance were analyzed.(3) Exon 2,3,5,7,8,10,11,12,13,14,15,19,20 in two xinjiang DD's families were examined by technology of DNA distill,PCR enlarge and ATP2A2 measure.Results:(1)clinical data of xinjiang DD's two genealogies were collected,the typical clinical representation includes keratotic papules predominately in seborrheic areas,the damage of oral cavity and the symptom of neuropsychiatric abnormalities weren'discovered in two families.Referen Sakuntabhai's judge standard about DD.In genealogy 1,light patients 4 case,intermediate patients 3 case,serious patients 4 case,the patients with the damagement of palm about 1 case and with the damagement of nail about 5 case.In genealogy 2,light patients 1 case,intermediate patients 2 case,serious patients 1 case,the patients with the damagement of palm about 1 case and with the damagement of nail about 2 case.In two genealogies,9 case patients were treated with acitretin,mended 8 case,inefficacy 1 case.(2)The genetic map showed that the disease was autosomal dominant inheritance.(3) Exon 2,3,5,7,8,10,11,12,13,14,15,19,20 in two xinjiang DD's families were examined,result attest to their without Reportorial mutation Conclusion:(1)The clinical character of xinjiang DD's two families accord with the typical papules darier's disease,different patients in a family sickness is variable,acitretin maybe is a efficient medication to cure DD.(2) xinjiang DD's two genealogies was autosomal dominant inheritance. (3) Exon 2,3,5,7,8,10,11,12,13,14,15,19,20 in two xinjiang DD's families without mutation.