Questions to prepare for classes and examination
• The concept of hereditary and congenital disorders, phenocopies. Classification of genetic disorders.
• Classification of mutations and mutagens.
• Mendelian disorders: definition and patterns of inheritance.
• Codominance, pleiotropism, genetic heterogeneity.
• Definition of penetrance and expressivity. Factors determining penetrance and expressivity.
• Features of autosome-dominant disorders. Examples of disorders transmitted by autosome-dominant trait.
• Features of autosome-recessive disorders. Examples of disorders transmitted by autosome-recessive trait.
• Features of sex chromosome-linked inheritance. Examples of disorders transmitted by X-linked trait.
• Biochemical and molecular basis of single-gene (Mendelian) disorders.
• Features of multifactorial (polygenic) disorders. The most common multifactorial disorders.
• The concept of chromosome disorders, their mechanism. Mosaicism. Types of chromosome aberrations: deletion, balanced and Robertsonian translocation, ring chromosome, inversion.
• Examples of the most common chromosome disorders. Monosomies and trisomies.
N 9
N., a healthy woman, visited a genetic counseling unit for consultation. She told her doctor that her father suffered from color blindness, but her mother had no vision problems. N. was anxious about the risk of color blindness to her future children.
Questions
• What are the manifestations of color blindness and the pattern of its inheritance?
• Can N. carry the gene of color blindness in her genotype?
• If she can, what is the probability of disease and the probability that her children (separately boys or girls) will be the carriers of the abnormal gene?