浙江大学医学院：孟德尔疾病（PPT讲稿）Mendelian Disorders

Mendelian disorders 张咸宁 zhangxianning@zju.edu.cn Tel:13105819271;88208367 Office: A705, Research Building 2012/09

Mendelian Disorders 张咸宁 zhangxianning@zju.edu.cn Tel：13105819271; 88208367 Office: A705, Research Building 2012/09

Locus Alleles Chromosome Pair LOCUs A Maternally Paternally Inherited Inherited Allele 1 Allele 2 , Phe His Ala Pro Ser Leu… Phe His Ala Leu Ser Leu.. Genotype: The combination of alleles that an individual possesses Phenotype: The physical characteristics of a cell or organism as defined by its genetic constitution

Genotype: The combination of alleles that an individual possesses. Phenotype: The physical characteristics of a cell or organism as defined by its genetic constitution

Major Patterns of Monogenic Inheritance Patterns of autosomal dominant inheritance(AD)常染色体显性 Patterns of autosomal recessive nheritance(AR)常染色体隐性 Patterns of X-linked recessive inheritance(XD)X连锁显性 Patterns of x-linked dominant inheritance(XR)X连锁隐性 Patterns of linked inheritance y连锁

Major Patterns of Monogenic Inheritance – Patterns of autosomal dominant inheritance (AD) 常染色体显性 – Patterns of autosomal recessive inheritance (AR) 常染色体隐性 – Patterns of X-linked recessive inheritance (XD) X-连锁显性 – Patterns of X-linked dominant inheritance (XR) X-连锁隐性 – Patterns of Y-linked inheritanceY-连锁

Symbols commonly used in Pedigree charts ndividuals Normal Pregnancy (male, female, unknown sex) (LMP or gestation) 20 wk 01/697 Affected individual Proband With >2 conditions Multiple individuals Consultand Inumber known Multiple individuals number unknown Spontaneous 人人人 abortion Male Female Deceased individual Affected spontaneous 人人 abortion Male Termination of pregnancy Male Female

Symbols Commonly Used in Pedigree Charts

Relationships Mating Twins Zygosity unknown Relationship no longer exists 口∥○ Consanguineous No children mating Biological parents Infertility lreason) Adoption in Adoption out Biological paren unknown

ssisted reproductive scenarios Sperm donation Surrogate mother Ovum donation Surrogate ovum donation

四② 2 9 2°and4° CElsevierNussbaumetal:thompsonandthompsonsgeneticsinMedicine7e-www.studentconsult.com Proband(先证者):II5 Pedigree drawing software: Progeny, etc

Proband（先证者）: III-5 Pedigree drawing software：Progeny, etc

Share of common genes due to Degree of kinship common ancestry Monozygotic twins Parents, children, siblings, dizygotic 1/2 twins Grandparents, grandchildren, uncles, 1/4 aunts, nephews, nieces, half-siblings, " double first cousins First cousins 1/8 First cousins once removed 1/16 Second cousins 1/32 Third cousins 1/128

eorge Edward (Duke of Kent)= Victoire 12 others Queen Victoria Alb Victoria= FredericⅢ Edward‖ Helena Louise Arthur Leopold trice Kaiser Albert Victor George v Victoria Irene Frederick Alexandra =Nicholas Alice Charles Edward Leopold maurice Wilhelm Il (Duke of Clarence) (Frittie) Rupert Victoria Eugenie Alphonso XI Miscount Trematon) Edvard VIll George VI Alice Waldemar Henry Olga Tatiana Maria Anastasia Alexis Alphonso Jaime Beatriz Boy Maria Juan Gonzalo Duke of windsor) Juan Carlos Princess Queen Elizabeth ll Prince Philip (Duke of Edinburgh Charles Anne Andrew Edward Paul Alexander European royal family pedigree indicating instances of hemophilia. Bold denotes hemophiliac male, Double underline denotes hemophilia carrier female. Single underline denotes possible hemophilia carrier female. [Reproduced from Stevens, RF(1999)British Journal of Haematology 105: 25- 32, with permission

AD A A Genotype homozygous heterozygous homozygous Phenotype unaffected affected

AD