MODULE 1 Study Guide.docx - MODULE 1 Study Guide 1 Differentiate genotype and phenotype Are there any situations where a person’s genotype and

MODULE 1 Study Guide.docx - MODULE 1 Study Guide 1...

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MODULE 1 Study Guide 1. Differentiate genotype and phenotype. Are there any situations where a person’s genotype and phenotype are the same? (Beery, Workman, & Eggert, p. 20; Pathophysiology, p. 147). Genotype : composition of genes at a given locus (position on the chromosome) Phenotype : outward appearance of an individual, results from genotype & environ. When homozygous (2 alleles are identical) gene alleles are the same, phenotype and genotype for that trait are same. 2. Determine the gender and ploidy of a person based on his or her karyotype. (Beery, Workman, & Eggert, p. 16-18). Karyotype : an organized arrangement of the chromosomes in a cell. Chromosomes are paired largest to smallest from 1 to 22. The 23 rd is the sex chromosomes and are either an XX for a girl or a XY for a boy. 3. Explain how dominant gene alleles and recessive gene alleles determine the expression of single gene traits. (Beery, Workman, & Eggert, p. 19-20; Pathophysiology, p. 147). An allele is a variation of a gene on a specific location, 2 alleles control how gene is expressed. Dominant allele : is always expressed if present. Allele whose affects are observable Recessive : allele whose effects are hidden. Recessive genes are expressed when both alleles are recessive or the same. When recessive and a dominant gene allele are paired together, only the dominant is expressed and recessive is silent.
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4. Compare the processes in spermatogenesis and oogenesis. (Beery, Workman, & Eggert, p. 56-66, Table 3-1). Spermatogenesis : -begins at puberty continues thru life, continuous process Completion meiosis 1 and 2 takes days to weeks, prophase hours to days long 1 diploid cell capable of creating 4 haploid sperm to fertilize ovum. Oogenesis: begins in fetal life and stops when menstruation stops Is a cyclic process. Completion meiosis 1 & 2 takes yrs, Not complete until fertilization Prophase 1 is years long. 1 diploid cell produces 1 haploid ovum capable fertilized 5. Differentiate the mode of inheritance of autosomal dominant, autosomal recessive, and sex-linked recessive patterns of inheritance for monogenic traits. (Beery, Workman, & Eggert, p. 71-84; Pathophysiology, p. 147-154) Autosomal dominant : trait equal in male and female family members. Trait has no carrier status, if have it it is expressed even if 1 or 2 alleles are dominant. -Trait appears in every generation, parent passes to child -Risk for heterozygous dominant allele to transmit to child is 50% -Risk for homozygous dominant allele to transmit to child is 100% Autosomal recessive : trait is equal in males & females, appears in siblings not parent -may not appear in all family members. Child’s risk w both affected parents is 100% -have a carrier status, if only have 1 affected allele, won’t be expressed
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