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