《医学遗传学 Medical Genetics》课程授课教案（PPT课件讲稿）chapter 5 疾病的单基因遗传 Monogenic Inheritance

Medical Genetics 05疾病的单基因遗传 Monogenic inheritance

Medical Genetics 05 疾病的单基因遗传 Monogenic Inheritance

Medical Genetics single-gene disorder or monogenic disorder Some disorders result when a mutation causes the product of a single gene to be altered or missing. These disorders are inherited in simple patterns similar to or identical with those described by Mendel for certain discrete characteristics in garden peas. Therefore it's also called mendelian diseases

Medical Genetics single-gene disorder or monogenic disorder Some disorders result when a mutation causes the product of a single gene to be altered or missing. These disorders are inherited in simple patterns similar to or identical with those described by Mendel for certain discrete characteristics in garden peas. Therefore, it’s also called Mendelian diseases

Medical Genetics Basic Pattern of Single gene Inheritance Autosomal dominant Autosomal recessive X-inked dominant X-inked recessive Y-linked

Medical Genetics Basic Pattern of Single Gene Inheritance Autosomal Dominant Autosomal Recessive X-linked Dominant X-linked Recessive Y-linked

Medical Genetics 1. Pedigree and proband Humans are unique among organisms in many ways, but one way which is near and dear to a geneticist's heart is that humans are not susceptible to genetic experimentation

Medical Genetics 1. Pedigree and Proband Humans are unique among organisms in many ways, but one way which is near and dear to a geneticist's heart is that humans are not susceptible to genetic experimentation

Medical Genetics The study of inherited mendelian traits in humans must rely on observations made while working With individual families

Medical Genetics The study of inherited Mendelian traits in humans must rely on observations made while working with individual families

Medical Genetics Classical cross fertilization breeding experiments as performed by mendel are not allowed in humans. Human geneticists are not allowed to selectively breed for the traits they wish to study

Medical Genetics Classical cross fertilization breeding experiments as performed by Mendel are not allowed in humans! Human geneticists are not allowed to selectively breed for the traits they wish to study!

Medical Genetics One of most powerful tools in human genetic studies is pedigree analysIs

Medical Genetics One of most powerful tools in human genetic studies is pedigree analysis

Medical Genetics pedigree They are graphic representations of a family tree which show the biological relationship of the index case or proband or propositus to the est of the individuals A family tree diagram that shows how a particular genetic trait or disease has been inherited

Medical Genetics pedigree They are graphic representations of a family tree which show the biological relationship of the index case, or proband or propositus to the rest of the individuals. A family tree diagram that shows how a particular genetic trait or disease has been inherited

Medical Genetics When human geneticists first began to publish family studies, they used a variety of symbols and conventions. Now there are agreed pon standards for the construction of pedigrees

Medical Genetics When human geneticists first began to publish family studies, they used a variety of symbols and conventions. Now there are agreed upon standards for the construction of pedigrees

Medical Genetics Symbols口 Marriage Female □-○ Extramarital Mating Sex Unspecified Divorce Number of children of Consanguineous Sex Indicated Marriage Affected Monozygotic Twins Heterozygote for Autosomal Trait Zygot Twins Carrier of X-Linked Recessive Trait Numbering of Proband Individuals in a Pedigree Diceased Proband isⅢ2) Perinatal Death Miscarriage □○ No Offspring Adopted Into a Family Adopted Out of a Family

Medical Genetics Symbols