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单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,Click to edit Master text,Second level,Third level,Fourth level,Fifth level,*,Click to edit Master title,单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,单击此处编辑母版标题样式,sex determination,&,sexlinked inheritance,Ji Qiuyan&Wang Dongzhou,Dec.1st 2023,sex determination,&,sexlinked,inheritance,sex-linked inheritance,sex determination,sex determination,conception,mechanism,conception,sex determination:,During embryonic development,a embryonic gonad which still no differentiation,to determine to develop into testes or ovaries in the process.It is to say dioecious biological sex determinism,and it is result from the interaction of genetic,environmental and physiological factors.,Main sex chromosomes,XY,ZW,XO,mechanism,Four cell lines in Gonad:,germ cell,s,teroid-producing cells,(male:leydig;female:theca),s,ertoli cells,(male:sertoli;female:follicol),r,elated cells,nine genes to be concerned with sexdifferentiation (Molecular level),Sex-determining gene of sex chromosome:,Sex-determining region of Y chromosome：SRY,Sex-determining region of,X,chromosome：DAX1,Sex-determining gene on euchromosome:,SOX,（,SOX3,、,SOX9,）,AMH,(,MIS,),WT1,SF1,Dmrt1,Wnt4,SRY,(,Sex-determining region of Y chromosome),1.,SRY play the on-off action，and the gene of man have the function of transcription。,SRY,can restrain the development of,Mullerian duct,by dominant the secretion of some thing;it also can produce male structures.,2.,If female be short of SRY,the DSS of X chromosome will transcription,so to promote the development of ovary.,DAX1,(Dosage sensitive sex-reversal-adrenal hypoplasia congenital-critical region of the X chromosome gene 1),DAX1stem from two genetic locis of X chromosome which name is DSS and AHC;,DAX1 protein is affected by retinoic acid receptor negative regulator of transcription factors,there is the function of ovary-mediated.,SOX,(Sry-type HMG box),SOX9 (Sry-type HMG box 9),SOX9,have the rule both on Skeletal Development and sex determination,SOX9 Initially expressed in both male and female genital ridge,when sry expressed,it will express in the male genital ridge,and then Cause podocyte development,Sox9,have the same function of SRY,and if Sry gene deletion,SOX9 will Induce male differentiation to ensure normal development of male,SOX3,(Sry-type HMG box 3),SOX3is the only gene which lie in X chromosome.This gene associated with the Sry gene,SOX3 and Sry genes may be allele.it can encode Sry-binding protein in male sex embryos,and play the rule in embryonic central nervous system development and undifferentiated gonad,Wt1,（Wilmstumor suppressor gene 1）,Inhibition of cell division and differentiation,and is concerned with mesenchymal cells form ovarian.,It may control SRY at the beginning of sexdifferentiation,and activate a series of genes,then result in the formation of testis.,A,MH（Anti-Mullerian hormone）,AMHis an important factor in male differentiation,gene expression of AMH degrade,Mullerian duct,in male body,then prevent it from developing into the female genital organs.,SF1,（Steroidogenic factor 1）,Regulate the gene expression both in gonad and adrenal gland;,Participate in transcriptional regulation of many genes of steroid generation,reproduction,and male sexual differentiation.,Wnt4,(Wingless-related MMTV integration site 4),Potential ovarian determining gene of euchromosome.At beginning it expressed in Renal mesenchymal and Undifferentiated gonad.,It can Inhibite male sexual differentiation and synthetic hormone androgen by female gonad.,Developmental mechanisms,of sexuality,sex-linked inheritance,01,02,03,conception,Separation of the disease,Case analysis,conception,sexlinked inheritance,:,A genetic pattern which in the genetic,process,some trait of the offsprings are controlled,by the gene of sex chromosomes.,The separation of disease,X,linked dominant inheritable disease,X,linked recessive inheritable disease,Y,linked inheritable disease,X,linked dominant inheritable disease,characteristic:,paroxysm will happen if there have the Disease-causing gene,and the paroxysm of women is about twice as much as men.,if a man to be sicked,at least one of his parents also sick(except genic mutation),it can inheritant for successive generations,but the patients daughter who is healthy will not genetic to the next generation,man will genetic to his daughter while woman will genetic to both her daughter and son,and the probability is equal,some cases:,alport syndrome,（,AS),vitaminD-resi-stantRickets,pseudohypertrophic muscular dystrophy,Case analysis of X,linked dominant inheritable disease,alport syndrome,（,AS),Hereditary nephritis(alport syndrome,AS)is a serious genetic disease that can lead to end-stage renal failure,，So far,a number of different regions and ethnic groups have reported to find AS.,Genetic approach,The,Genetic approach,of AS is heterogeneous,and it is reported that the Disease-causing gene is COL4An,which is the gene of encoding basement membrane collagen type chai
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