GENETICS II

3. listen Specific physical region or amino acid sequence in a protein which is associated with a particular function or corresponding segment of DNA.
5. Type of genetic change that involves the addition of a segment of DNA. It may be as small as a single base but can vary significantly in size.
6. Study of the structure, function, and abnormalities of human chromosomes.
8. Process of synthesizing messenger RNA (mRNA) from DNA.
10. Type of genetic change that involves the absence of a segment of DNA.
11. Individual through whom a family with a genetic disorder is ascertained.
12. Cells from which eggs or sperm (i.e., gametes) are derived.
15. Pertaining to both alleles of a single gene (paternal and maternal).
17. Distinctive facial feature or expression that is characteristic of a specific condition.
19. Any of the chromosomes numbered 1-22 or the genes on chromosomes 1-22.
20. End of a chromosome.
21. Individuals in a pedigree who exhibit the specific phenotype under study.
23. An extended family.
24. Chromosomal defect in which a segment of the chromosome breaks off and reattaches in the reverse direction.

1. The molecular basis of heredity.
2. Genetic relatedness between individuals who are descendants of at least one common ancestor.
4. Sequence of DNA in between exons that is initially copied into RNA but is cut out of the final RNA transcript and therefore does not change the amino acid code. Some intronic sequences are known to affect gene expression.
7. A condition or trait present at birth.
9. Unit of heredity that occupies a specific location on a chromosome.
11. Graphic illustration of family history.
13. Physical site or location of a specific gene on a chromosome.
14. listen Phenotype or trait that occurs with greater frequency in a given family than in the general population.
16. An individual who presents for genetic counseling.
18. An individual who carries one deleterious allele for an autosomal recessive disorder.
22. Presence of an extra chromosome, resulting in a total of three copies of that chromosome instead of the normal 2 copies.