遗传学课件monogenicdiseasea.ppt
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1、Monogenic Disease,Medical Genetics,TerminologyPedigree symbol&Pedigree analysisPedigree characteristicsTypes of ADInfluential factorEstimate of recurrence risk,Emphasis,Dominant(A)&Recessive(a),Locus&Allele(multiple alleles),Terminology,Homozygote:AA or aa,Heterozygote:Aa,The pedigree is a visual to
2、ol for documenting biological relationships in families and the presence of traits or diseases.,1.Pedigree,1.Pedigree,Proband(index case),Proband is the first affected family member who seeks medical attention for a genetic disorder.,1.Pedigree1.1.Pedigree Symbol,III,1 2,1 2 3,1.Pedigree1.1.Pedigree
3、 Symbol,Information of family members more than three generationsInformation verified by genetic consultantInvestigating the death cause,death age,consanguineous marriage,fetal death,abortion,neonatal death,1.Pedigree1.2.Pedigree Analysis,AD inheritance are those in which a single copy of a mutant g
4、ene on autosome is enough for the trait to be expressed or shown.,2.Autosomal Dominant(AD),The phenotype of the heterozygote(Aa)will be indistinguishable from the phenotype of the homozygous(AA)dominant.,2.Autosomal Dominant(AD)2.1.Complete Dominance,Brachydactyly,type A1(MIM 112500),2.Autosomal Dom
5、inant(AD)2.1.Complete Dominance,(引自高波等,2001),Brachydactyly,type A1(MIM 112500),2.Autosomal Dominant(AD)2.1.Complete Dominance,Pedigree of AD,2.Autosomal Dominant(AD)2.1.Complete Dominance,Pedigree characteristics,Each affected individual has one affected parent50%of sibs and offspring are affectedMa
6、les and females are affected with equal probabilityPassed in a vertical fashion,2.Autosomal Dominant(AD)2.1.Complete Dominance,The phenotype of the heterozygote(Aa)will be intermediate between the phenotypes of the two homozygotes(AA or aa).,2.Autosomal Dominant(AD)2.2.Incomplete Dominance,Achondrop
7、lasia(MIM 100800),2.Autosomal Dominant(AD)2.2.Incomplete Dominance,(引自Wolf Wikis North Carolina State University),Achondroplasia(MIM 100800),2.Autosomal Dominant(AD)2.2.Incomplete Dominance,(引自Wolf Wikis North Carolina State University),Both alleles will be completely expressed in the heterozygote,a
8、nd the individual has a different phenotype than that of either homozygote.,MN blood group(MIM 111300),ABO blood group(MIM 110300),2.Autosomal Dominant(AD)2.3.Codominance,ABO blood group(MIM 110300),2.Autosomal Dominant(AD)2.3.Codominance,ABO blood group(MIM 110300),2.Autosomal Dominant(AD)2.3.Codom
9、inance,FUT1(19q13.33)ABO(9q34),FUT2(19q13.33),Sometime the heterozygote(Aa)will not show the phenotypes of dominant allele,or show different clinical symptoms of it.,2.Autosomal Dominant(AD)2.4.Irregular Dominance,Penetrance,Penetrance in genetics is the proportion of individuals carrying a particul
10、ar variation of a gene(allele or genotype)that also express an associated trait(phenotype).,2.Autosomal Dominant(AD)2.4.Irregular Dominance,Polydactyly,postaxial,type A1(MIM 174200),2.Autosomal Dominant(AD)2.4.Irregular Dominance,Polydactyly,postaxial,type A1(MIM 174200),2.Autosomal Dominant(AD)2.4.
11、Irregular Dominance,Complete penetranceIncomplete penetrance,Forme frusteSkipped generation,Penetrance,2.Autosomal Dominant(AD)2.4.Irregular Dominance,Expressivity,Expressivity is a term used in genetics to refer to variations in a phenotype among individuals carrying a particular genotype.,2.Autoso
12、mal Dominant(AD)2.4.Irregular Dominance,Osteogenesis imperfecta,type(MIM 166200),2.Autosomal Dominant(AD)2.4.Irregular Dominance,2.Autosomal Dominant(AD)2.4.Irregular Dominance,Osteogenesis imperfecta,type(MIM 166200),Marfan syndrome(MIM 154700),2.Autosomal Dominant(AD)2.4.Irregular Dominance,Marfan
13、 syndrome(MIM 154700),2.Autosomal Dominant(AD)2.4.Irregular Dominance,Marfan syndrome(MIM 154700),2.Autosomal Dominant(AD)2.4.Irregular Dominance,Marfan syndrome(MIM 154700),2.Autosomal Dominant(AD)2.4.Irregular Dominance,Not all genetic disorders are congenital,some are expressed at a characteristi
14、c age and others at variable ages.,2.Autosomal Dominant(AD)2.5.Delayed Dominance,2.Autosomal Dominant(AD)2.5.Delayed Dominance,Huntington disease(MIM 143100),Exon:(CAG)n n=9 34,average 20 n=37100,average 46,Huntingtin(IT 15):4p16.3,Dynamic mutation,Huntington disease(MIM 143100),2.Autosomal Dominant
15、(AD)2.5.Delayed Dominance,Huntington disease(MIM 143100),2.Autosomal Dominant(AD)2.5.Delayed Dominance,AR inheritance are characterized only in individuals homozygous for the mutant gene on autosome.,3.Autosomal Recessive(AR),Carrier(Aa),An individual that carries one gene for a particular recessive
16、 trait.A carrier does not express the trait but,when mated with another carrier,can produce offspring that do.,3.Autosomal Recessive(AR),Pedigree of AR,3.Autosomal Recessive(AR),Pedigree of AR,3.Autosomal Recessive(AR),Pedigree characteristics,Both parents are carriers1/4 of sibs are affected.Males
17、and females are affected with equal probability2/3 of unaffected sibs are carriersThe diseases are sporadicThe risk of offspring is higher in consanguineous marriage,3.Autosomal Recessive(AR),AR diseases,Sickle cell disease(MIM 603903),Sickle-cell disease(SCD),or sickle-cell anaemia(SCA),is an AR ge
18、netic blood disorder with co-dominance,characterized by red blood cells that assume an abnormal,rigid,sickle shape.,3.Autosomal Recessive(AR),AR diseases,Sickle cell disease(MIM 603903),3.Autosomal Recessive(AR),GAG,GTG,AR diseases,Sickle cell disease(MIM 603903),3.Autosomal Recessive(AR),AR disease
19、s,Sickle cell disease(MIM 603903),3.Autosomal Recessive(AR),AR diseases,Sickle cell disease(MIM 603903),3.Autosomal Recessive(AR),AR diseases,Sickle cell disease(MIM 603903),3.Autosomal Recessive(AR),AR diseases,Phenylketonuria(MIM 261600),Phenylketonuria(PKU)is a rare,inherited,metabolic disorder r
20、esulting from a deficiency of phenylalanine hydroxylase(PAH).,3.Autosomal Recessive(AR),AR diseases,Phenylketonuria(MIM 261600),1 in 13333 births,3.Autosomal Recessive(AR),Metabolism of phenylalanine(Phe),Melanin,“Mousy”smell in the sweat and urineLighter colored skin,hair,and eyesMental retardation
21、,3.Autosomal Recessive(AR),AR diseases,Phenylketonuria(MIM 261600),3.Autosomal Recessive(AR),AR diseases,Phenylketonuria(MIM 261600),Guthrie test,24 hours after birth,usually done at age 7 to 10 daysA urine PKU test is done on a baby who is older than 6 weeks,3.Autosomal Recessive(AR),AR diseases,Ph
22、enylketonuria(MIM 261600),Guthrie test,3.Autosomal Recessive(AR),AR diseases,Phenylketonuria(MIM 261600),Guthrie test,3.Autosomal Recessive(AR),AR diseases,Phenylketonuria(MIM 261600),Guthrie test,A normal blood phenylalanine level is about 1mg/dlIn cases of PKU,levels may range from 680 mg/dl,but a
23、re usually greater than 30 mg/dl,3.Autosomal Recessive(AR),AR diseases,Phenylketonuria(MIM 261600),A strictly controlled phenylalanine free diet up to the age of about 14 years oldPhenylalanine is itself an essential amino acid small doses must be supplied,3.Autosomal Recessive(AR),AR diseases,Pheny
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