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Molecular Biology Final Topics > Lecture Questions > Flashcards

Lecture Questions Flashcards

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1
Q

It is a highly repeated sequence approximately 0.3 kbp in length, including Alu elements.

A

Short Interspersed Nucleotide Elements

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2
Q

Head-to-tail repeats in DNA with 10-50 bp repeat units.

A

Variable-number Tandem Repeats

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3
Q

It is a Highly repeated sequence (6-8 kbp in length) containing RNA polymerase promoters and open reading frames.

A

Long Interspersed Nucleotide Elements

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4
Q

Restriction Fragment Length Polymorphism is an example of a _____, in which the sizes of the fragments define alleles.

A

continuous allele system

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5
Q

Analysis time of short tandem repeats.

A

24 - 48 hours

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6
Q

It is the likelihood that 2 people tested share 1 common parent.

A

Half-sibling test

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7
Q

It is the likelihood that 2 people tested share common father and mother.

A

Full-sibling test

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8
Q

2 alleged relatives are related as either an aunt/uncle or a niece/nephew

A

Avuncular testing

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9
Q

was developed for surname testing and forensics identification of male offenders or victims.

A

Y-STR

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10
Q

It is a term used to express the situation where all locus genotypes (alleles) from two sources are the same

A

Genetic concordance

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11
Q

It is another anomaly of PCR amplification, in which the polymerase may miss a repeat during the replication process, resulting in two or more different species in the amplified products.

A

Stutter

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12
Q

Collection of all peaks or bands within a characteristic distribution of positions and areas is called?

A

Binning

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13
Q
A
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14
Q

It is also known as the likelihood of paternity and is calculated for each locus in which the alleged father and the child share an allele.

A

Paternity Index

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15
Q

The paternity index for each locus, therefore, can be multiplied together to calculate the ____, which summarizes and evaluates the genotype infrmation.

A

Combined Paternity Index

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16
Q

It is a number calculkated from the combined paternity index (genetic evidence) and prior odds (nongenetic evidence).

A

Probabilty of Paternity

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17
Q

It is calculated from the frequency of occurrence of a given haplotype in a tested population.

A

Haplotype Diversity

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18
Q

It is determined by the number of different haplotypes seen in the tested population and the total number of samples in the population.

A

Discriminatory Capacity

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19
Q

One locus in which donor alleles differ from the recipient alleles.

A

Informative locus

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20
Q

Flat facial profile, mental retardation, cardiac problems, risk of acute leukemia, eventual neuropathological disorders, abnormal immune system.

A. Cri du chat Syndrome
B. Multi X Females
C. Patau Syndrome
D. Turner Syndrome
E. Down Syndrome

A

Down Syndrome

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20
Q

Mental retardation increases with increasing X.

A. Cri du chat Syndrome
B. Multi X Females
C. Patau Syndrome
D. Turner Syndrome
E. Down Syndrome

A

Multi X Females

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21
Q

are those in which the donor and the recipient have the same alleles.

A

Noninformative loci

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22
Q

Cleft palate, heart damage, mental retardation, survival usually less than 6 months.

A. Cri du chat Syndrome
B. Multi X Females
C. Patau Syndrome
D. Turner Syndrome
E. Down Syndrome

A

Patau Syndrome

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23
Q

Growth deficiency, catlike cry in infancy, small head, mental retardation.

A. Cri du chat Syndrome
B. Multi X Females
C. Patau Syndrome
D. Turner Syndrome
E. Down Syndrome

A

Cri du chat Syndrome

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24
Q

Bilateral neck webbing, heart disease, failure to develop secondary sex characteristics, hypothyroidism.

A. Cri du chat Syndrome
B. Multi X Females
C. Patau Syndrome
D. Turner Syndrome
E. Down Syndrome

A

Turner Syndrome

25
Q

A mixture of donor and recipient alleles was present.

A

Mixed chimerism

26
Q

It is the frequency of expression of disease phenotype in individuals with a gene lesion.

A

Penetrance

27
Q

It is a range of phenotypes in individuals with the same gene lesion.

A

Variable Expressivity

28
Q

Detection method of Lysosomal Storage Disease.

A

Direct Sequencing

29
Q

Molecular methods in order to test Leiden mutation.

A

PCR-RFLP and SSP-PCR

30
Q
A
31
Q

It is an autosomal recessive condition that causes overabsorption of iron from food. iron accumulation subsequently causes pancreas, liver, and skin damage; heart disease; and diabetes.

A

Hemochromatosis

32
Q

It is a life-theatening autosomal recessive disorder that causes severe lung damage and nutritional deficiencies.

A

Cystic Fibrosis

33
Q

The clinical sysmptoms of this disease includes impaired judgment, slurred speech, difficulty in swallowing, abnormal body movements (chorea), personality changes, depression, mood swings, unsteady gait, and an intoxicated appearance. With onset in the 30s or 40s, these symptoms do not become obvoius until the fourth or fifth decade of life, usually after family planning.

A

Huntington Disease

34
Q

It is a rare pediatric disorder characterized by inadequate breathing while asleep. More affected children may also experience hypoventilation while awake.

A

Idiopathic Congenital Central Hypoventilation

35
Q

It is associated with a triple-repeat (CGG) expansion in the noncoding region 5’ to the fragile X mental retardation gene, FMR-1.

A

Fragile X Syndrome

36
Q

In order to test Progressive enternal opthalmoplegia, what molecular methodology is used?

A

Southern Blot

37
Q

A disease caused by trinucleotide-repeat disorders.

A

Huntington Disease

38
Q

Movement of tumor cells from the original (primary) site of the tumor to other locations.

A

Metastasis

39
Q

invasive and tending to recur at multiple sites (cancer).

A

Malignant

40
Q

the study of cancer at the molecular level, using techniques that allow the direct detection of genetic alterations, down to single-base-pair changes.

A

Molecular Oncology

41
Q

Tumor of epithelial origin.

A

Carcinoma

42
Q

tumor of bone, cartilage, muscle, blood vessels, or fat.

A

Sarcoma

43
Q
A
44
Q
A
45
Q

It is a neoplastic disease of blood-forming tissue in which large numbers of white blood cells populate the bone marrow and peripheral blood.

A

Leukemia

45
Q

Abnormal plasma cell/cells form tumor in the bones/soft tissues of the body.

A

Plasma cell neoplasm

46
Q

It is a neoplasm of lymphocytes that forms discrete tissue masses.

A

Lymphoma

47
Q

HER2/neu was developed in_____neuro/glioblastoma cell lines in 1958.

A

Rat

48
Q

FISH testing for HER2/neu gene amplification requires a labeled probe for the HER2/neu gene and a differently labeled control probe for the centromere of chromosome_____?

A

Chromosome 7

49
Q

Chromogenic in situ hybridization (CISH) is another method that has been used to detect HER2/ neu gene amplification. Using this microscope, CISH technology also detects deletions, trans-locations, or a change in the number of chromosomes.

A

Standard bright-field microscope

50
Q

K-ras4B is located on?

A

Plasma membrane

51
Q

In ras, the most common oncogene mutations in human cancers?

A

K-ras

52
Q

K-ras mutations are detected and identified by?

A

Direct Sequencing

53
Q

A group of tumors arising from primitive neuroectodermal tissue (PNET), it compromises family of childhood neoplasm.

A

Ewing Sarcoma, EWS (22q12)

54
Q

This mutation is also present in some types of leukemia and lymphomas. Carriers of this autosomal-recessive mutations is at increased risk for developing leukemia, lymphoma, or other types of cancers.

A

Ataxia Telangiectasia Mutated Gene, ATM (11q22)

54
Q

It is the most common soft tissue sarcoma of childhood for 10% of all solid tumors in children.

A

Rhabdomyosarcoma (RMS)

55
Q

Clinical application method fro Breast Cancer 1 Gene, BRCA1 (17q21), and Breast Cancer 2 Gene, BRCA2.

A

Direct Sequencing

56
Q

Genetic condition involving abnormal growth of blood vessels in organs (eyes, kidneys, adrenal glands, etc.).

A

von Hippel-Lindau gene, VHL (3p26)

57
Q

It is the most frequently expressed myc.

A

c-myc oncogene (8q24. 21)

58
Q

Dysregulates the BCL2 gene on chromosome 18q21.3 (B-cell leukemia and lymphoma 2 or B-cell CLL/lymphoma 2).

A

t (14;18) (q32; q21)

59
Q

nganong gwapa mn jud kayko bai

A

unta kamo pud

Molecular Biology Final Topics (2 decks)

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