HMX GENETICS Exam Study Guide Questions And Answers Verified 100% Correct

HMX GENETICS Exam Study Guide Questions And Answers Verified 100% Correct Balanced translocation - ANSWER -piece of chromosome is merely broken off and attached to another one Copy Number Variant (CNV) - ANSWER -number of copies of a particular gene varies from one individual to the next. Gain or loose DNA. deletion, duplication, aneuploidy Deletion - ANSWER -one base/part of chromosome is removed from DNA sequence Duplication - ANSWER -section of chromosome is repeated Fluorescence in situ hybridization (FISH) - ANSWER -can detect large or small aneuploidies or rearrangements. Fluorescent probe binds to part of DNA. interchromosomal - ANSWER -involve multiple chromosomes intrachromosomal - ANSWER -involving a single chromosome inversion - ANSWER -part of chromosome is flipped/switched karyotype - ANSWER -complete diploid set of chromosomes grouped together in pairs, arranged in order of decreasing size. Can be used to detect large aneuploidies or rearrangements microarray - ANSWER -microscope slides with thousands of tiny spots with DNA in it to detect chromosomal aberrations Monoploidy - ANSWER -loss of 1 set of chromosomes Monosomy - ANSWER -condition in which an individual has one copy of a chromosome Nondisjunction - ANSWER -failure of separation of homologous chromosomes or sister chromatids during meiosis. Leads to production of aneuploid germ cells which can result in trisomy or monosomy at fertilization proble - ANSWER -single-stranded DNA used to detect presence of complementary nucleic acid sequences (target sequences) by hybridization rearrangement - ANSWER -inversion or balanced translocation. change in structure of chromosomes. structural variation - ANSWER -variation that affects portion of a chromosome. Material gained, lost, rearranged. Affect large region of DNA, but not entire chromosome triploidy - ANSWER -presence of extra set of chromosomes trisomy - ANSWER -3 copies of a chromosome unbalanced translocation - ANSWER -exhange of chromosome material is unequal resulting in extra or missing genes whole chromosome aneuploidy - ANSWER -an entire chromosome is gained or lost from cells that are produced. Caused by nondisjunction events. Most are lethal. Most common exception: trisomy 21. Monosomy or trisomy malignant carcinoma - ANSWER -invades local tissue and can spread throughout body adenoma - ANSWER -group of abnormal, but benign cells Haploinsufficiency - ANSWER -losing one allele leads to decrease expression of gene which leads to disease phenotype. Loss of func -- dominant. cancer (cells) - ANSWER -collection of disease characterized by uncontrolled cell growth. Can divide rapidly, evade protective mechanism that kills abnormal cells and metastasize. Accumulation of driver mutations-influenced by genetic and environmental factors. Caused by a series of somatic mutation - can be caused by mutations in proto-oncogenes and tumor supressor genes carcinogen - ANSWER -chemical or physical factors that promote mutations clone - ANSWER -group of organisms or cells produced asexually from one ancestor who are genetically identical DNA damage repair genes - ANSWER -set of proteins that recognize sites of DNA damage and can repair them in a couple different ways. Slows down rate of mutation in cell Driver mutations - ANSWER -~2-20 mutations that occur over a long period of time which allow cancer to progress in some way. Cause cancer gain of function mutations - ANSWER -increase expression of gene or activity of protein. Dominant. Cause cancer duplication germline (mutations) - ANSWER -affect all the cells in an individual of the next generation. De Novo. Can occur during sperm or egg development or after fertilization. Inherited Hereditary cancer syndrome - ANSWER -run in families loss of function mutations - ANSWER -disrupts function of gene or protein (things that normally inhibit cell growth would be less active). Recessive. Cause cancer, by deletion. Metastasis - ANSWER -migration to other parts of the body mitosis - ANSWER -necessary to produce a multicellular organism from a fertilized zygote mutation - ANSWER -event that changes sequence of DNA, change produced by event. change in sequence of DNA passenger mutations - ANSWER -don't contribute to cancer progression, also accumulate over time, don't affect cancer progression precision medicine - ANSWER -involves targeting specific driver mutations in an individual tumor. Targeting the specific genetics of a tumor. Medical care designed to optimize efficiency or therapeutic benefit for particular patients Proto-oncogenes - ANSWER -genes that encode: growth promoting factor. Activate signals for DNA replication, mitosis, and cell division. Gain of function.