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- W2343584148 abstract "Human genetic research is primarily motivated by the need to understand the inheritance of certain medically important traits. This is in addition to our natural curiosity to understand ourselves, our origins, and the diversity we observe among people. However, humans are often regarded as challenging genetic subjects given our long generation times, small progeny sizes, and ethical considerations that preclude conducting controlled experiments. To surmount these difficulties, human geneticists traditionally rely on records of matings already done in the past. Through the analysis of pedigrees obtained from several families, the pattern of inheritance can be inferred for certain characters or diseases controlled by single genes. Such “monogenic traits” can be described to conform to the Law of Segregation first defined by Gregor Mendel through his breeding experiments in pea plants. Different patterns of inheritance that may be observed in human families include autosomal dominance, autosomal recessive, X-linked dominance, X-linked recessive, and Y-linked inheritance. Albeit human genetic research has greatly advanced since the sequencing of the human genome, pedigree analysis remains an inexpensive and robust application for resolving familial issues with genetic bases such as inferring disease risks and parentage disputes. The goal of this workshop is to demonstrate the use of pedigree analysis in investigating patterns of inheritance for monogenic traits in humans. Fundamental laws of Mendel will be reviewed, followed by an introduction of standardized symbols used in human pedigree charts. The different patterns of inheritance will be discussed through human examples. Participants will form groups that will solve sample problems through the pedigree analysis. They will draw and present the pedigree charts during the remainder of the session." @default.
- W2343584148 created "2016-06-24" @default.
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- W2343584148 date "2016-02-27" @default.
- W2343584148 modified "2023-09-23" @default.
- W2343584148 title "MENDELIAN INHERITANCE IN HUMANS: THE PEDIGREE ANALYSIS" @default.
- W2343584148 hasPublicationYear "2016" @default.
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