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Background Problem N° 4 Objective: To use pedigrees in a case of an inherited disease in humans in order to determine the type of generic inheritance 3 4 According to the National Cancer Institute (NCI), a pedigree is an illustration of family history and it shows relationships between family members and patterns of inheritance for certain traits and diseases.3 3 2 3 Pedigrees use standard symbols and conventions: O female: male; affected | Analyze the pedigree for myopia (nearsightedness) in a human family, depicted above female: affected male: proband, (a.k.a consultand, the subject of genetic studies Check the handout Standard Pedigree Nomenclature in folder Minicourse 1 for more symbols). Leftmost Roman numerals generation considered in the pedigree; Arabic numerals per row: individuals in that particular generation, regardless of what nuclear family they are in; combinations of Roman and Arabic numerals, a certain individual in a particular generation; e.g., affected female llI-2, unaffected male I-3] Question: What type of genetic inheritance is observed in this family for myopia? Here are a few pointers: Is there a hemizvgous allele, linked to the Y chromosome? Is it a hemizygous allele linked to the X chromosome? Is it a recessive or dominant autosomal trait? Yes No Yes No Recessive Dominant Assuming that myopia is determined by a single allele, use the symbols M, m and assign genotypes to all individuals on the pedigree above Which individuals genotypes would help in distinguishing what kind of inheritance for this trait is in play here and why? Remember that individuals are designated with the generation (Roman numeral) and the individual number (Arabic numeral), for example, 14, 112, Il13, etc. Homozygous: two identical alleles in both homologous chromosomes, AA, or ga Answer and explanation Heterozygous: different alleles on the homologous chromosomes, Ag Hemizvgous: one allele is present in one chromosome but not in the other. This can happen in sex-chromosomes, XYSDR XHY

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