The CDSN Gene Mutation Analysis Of Hereditary Hypotrichosis Simplex Of Scalp In Chinese Han

Backgroun : Hereditary hair less disease is characterized by persistent hair loss monogenic hereditary skin disease,these diseases has significant clinical characteristics and genetic type 。 clinical feature : Patient began to appear hair loss with performance for the period of newborns and infants and young children,a few patients characterized by the onset of puberty.their eyebrows and eyelashes,pubic hair,armpit hair can be affected,or normal.According to the clinical feature can be divided into the following five types : 1.Hypotrichosis simplex Of scalp 2.Hereditary hypotrichosis simplex 3.marie Unna hereditary hypotriehosis 4.Autosomal dominant woolly hair 5.loose anagen hair syndrome.With the development of molecular genetics,These congenital less hair disorder disease genes also have been reported,While we this study mainly for less hereditation simple scalp hair disorder disease genes direct two-way CDSN gene sequencing,detection of CDSN gene mutations.Objective:Determine hereditation simple scalp hair disease everyone is less pathogenic a new pathogenic mutations,From the level of molecular genetics explains its pathogenesis and for genetic counseling,genetic diagnosis,provides the theory basis,rich single gene mutation spectrum of genetic diseases.Method: 1.For example of congenital simple scalp hair disease less family members genetics investigation,laboratory examination,clinical manifestations and signs the check;2.detaching the patient’s disease patients informed permission number of electron microscope scanning analysis,considerate outside the venous blood samples collected and extract DNA samples;3.With premier 5.0 on previous reports had CDSN gene primer design 4.Using PCR amplification technology,amplification patients and other members of the family all CDSN gene exon 5.ABI3730 XL sequencer was used to direct two-way sequencing,determine the presence of pathogenic mutations 6.According to the rule of the mutation is in line with the family in the genetic analysis of sequencing data 7.Summarize the literature at home and abroad,to explore the relationship between mutation loci and phenotype.Results:The family patients were characterized for adolescent scalp grease is secreted increase,hair loss,thin,soft,gradually grow to 7 cm no longer grow.Pubic hair,armpit hair,eyebrows,eyelashes,teeth and nails are not affected Physical examination: physical and mental development are normal,Scanning electron microscopy : normal.DNA sequencing results show :Family all of the patients are in an insert mutation in the coding region（c.520₅21ins G）,All the normal patients were not found in the family the insertional mutagenesis,Between genotype and phenotype correlation study shows that in the coding region insertion mutation（c.520 insg）leads to downstream frame shift mutation,cause changes in the subsequent structure of amino acids that cause phenotypic changes.Conclusions :On a Chinese hereditary simple scalp hair less disease family,CDSN gene directly bidirectional sequencing,the sequencing results analysis,and found a insertional mutagenesis c.520₅21ins G（P.A174fs）。...