Abtract singlegene inheritance is used to simply describe a trait having its genetic performance in segregating generations as single gene inherited. Recognize the pattern of inheritance of a trait segregating in a family. The chromosomal location of the gene locus autosomal located on an autosome xlinked located on the x chromosome whether the phenotype is dominant or recessive dominant recessive. Although the majority of these diseases are rare, in total, they affect millions of americans. Medical genetics at a glance pdf free download medicos ideas.
This activity builds on information presented in the short film genes as medicine. Describe aspects of phenotypic expression, using traits discussed in lecture as examples. Learn about the ttest, the chi square test, the p value and more duration. When a trait is inherited though a single gene pair, there are five possible allele combinations. Single gene disorders are among the most wellunderstood genetic disorders given their straightforward inheritance patterns recessive or dominant and relatively simple genetic etiology. Choose from 500 different sets of single gene inheritance flashcards on quizlet.
Single gene pair inheritance occurs when a trait is linked to one gene pair that consists of two alleles. Inheritance and mutations in a singlegene disorder. Complex disorders or multi factorial inheritance disorders. Above are the some of the single gene disorders that affects at least 1 in 500 people around the globe. Identify the mode of inheritance of traits discussed in lecture. Page 3 of 7 activity you may want to have students work in pairs or small groups to complete this activity. They also examine protein sequence data to explore mutations that can cause lca. However, some single gene disorders display characteristic patterns, particularly when penetrance is high and expressivity is full.
Students interpret actual pedigrees to determine the inheritance pattern of leber congenital amaurosis lca, an inherited form of blindness. Mendelian inheritance the patterns shown by single gene disorders in pedigrees depend chiefly on two factors. Single mutated gene can be passed on to subsequent generation transmission of single gene disorders autosomal dominant autosomal recessive xlinked dominant xlinked recessive the division between recessive and dominant is not clear cut genotype vs. Inheritance and mutations in a single gene disorder educator materials genetic disease september 2019. Traits that are controlled by a single gene will follow a predictable pattern of inheritance. Lca is a disease that primarily affects the retina.