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Medical Genetics > Intro to Genetics Ch. 1-3 > Flashcards

Intro to Genetics Ch. 1-3 Flashcards

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USMLE® Step 1 flashcards Biology 101 flashcards
1
Q

Any of the alternative forms of a given gene

A

Allele

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2
Q

A prenatal test in which a small sample of the amniotic fluid surrounding the fetus is removed and examined

A

Amniocentesis

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3
Q

A condition in which extra or fewer copies of particular genes or chromosomes regions are present compared with the wild type

A

Aneuploidy

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4
Q

A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes.
-Have a 50/50 chance of passing mutant gene to each of their children

A

Autosomal dominant

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5
Q

All chromosomes other than the sex chromosomes

A

Autosomes

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6
Q

Prenatal test that involves taking a tiny tissue sample from outside the sac where the fetus develops. Performed between 10-12 weeks after last menstrual period.

A

Chorionic villus sampling (CVS)

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7
Q

Alteration in the number or physical structure of chromosomes

A

Chromosomal Aberration

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8
Q

DNA molecule that contains genes in linear order to which numerous proteins are bound

A

Chromosomes

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9
Q

Sequence of 3 adjacent nucleotides in an mRNA molecule, specifying either an amino acid or a stop signal in protein synthesis

A

Codon

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10
Q

Degrees of relationship between persons who descend from a common ancestor

A

Consanguinity

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11
Q

Feature of the genetic code in which an AA corresponds to more than one codon

A

Degenerate

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12
Q

Loss of chromosomal material

A

Deletion

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13
Q

Macromolecule usually compose of 2 polynucleotide chains in a double helix that is the carrier of genetic information in all cells

A

Deoxyribonucleic acid (DNA)

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14
Q

Refers to an allele whose presence in a heterozygous genotype results in a phenotype characteristic of the allele

A

Dominant

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15
Q

Chromosomal dysgenesis syndrome consisting of a variable constellation of abnormalities caused by triplication or translocation of chromosome 21.
-Affected individuals have some degree of mental retardation, characteristic facial features, and often heart defects

A

Down Syndrome

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16
Q

Region of DNA containing genetic information, which is usually transcribed into an RNA molecule that is processed and either functions directly or is translated into a polypeptide chain; hereditary unit

A

Gene

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17
Q

Systematic study of an organism’s genome using large scale DNA sequencing, gene-expression analysis, or computational methods

A

Genomics

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18
Q

Mutation that takes place in a reproductive cell

A

Germinal mutation

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19
Q

Describes an individual who has only one member of a chromosome pair or chromosome segment rather than the usual two; refers in particular to X-linked genes in males who under usual circumstances have only one X chromosome.

A

Hemizygous

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20
Q

Carrying dissimilar alleles of one or more genes

A

Heterozygous

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21
Q

Having the same allele of a gene in a homologous chromosomes

A

Homozygous

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22
Q

Genetically determined biochemical disorder, usually in the form of an enzyme defect that produces a metabolic block

A

Inborn errors of metabolism

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23
Q

Structural aberration in a chromosome in which the order of several genes is reversed from the normal order

A

Inversion

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24
Q

Disorder that occurs when an ovum with an extra X chromosome is fertilized by a sperm with a Y chromosome resulting in XXY genotype male who is sterile

A

Klinefelter Syndrome

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25
Q

Site or position of a particular gene on a chromosome

A

Locus

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26
Q

Mechanism of inheritance in which the statistical relations between the distribution of traits in successive generations result from 3 factors

A

Mendelian Genetics

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27
Q

3 factors for Mendelian Genetics

A

1) Particulate hereditary determinants (genes)
2) Random union of gametes
3) Segregation of unchanged hereditary determinants in the reproductive cells

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28
Q

An RNA molecule that is transcribed from a DNA sequence and translated into the amino acid sequence of a polypeptide

A

Messenger ribonucleic acid (mRNA)

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29
Q

Small circular chromosome found in each mitochondrion that encodes tRNA, rRNA, and proteins that are involved in oxidative phosphorylation and ATP generation

A

Mitochondrial chromosome

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30
Q

Of, relating to, or controlled by a single gene, especially by either of an allelic pair

A

Monogenic

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31
Q

Condition in an otherwise diploid organism in which one member of a pair of chromosomes is missing

A

Monosomy

32
Q

Heritable alteration in a gene or chromosome; also, the process by which such an alteration happens

A

Mutation

33
Q

Failure of chromosomes to separate and move to opposite poles of the division spindle; the result is loss or gain of a chromosome

A

Nondisjunction

34
Q

Diagram representing the familial relationships among relatives

A

Pedigree analysis

35
Q

Genetic disorder resulting from the combined action of alleles of more than one gene

A

Polygenic

36
Q

Condition of a diploid cell or organisms that has 3 or more copies of a particular chromosome

A

Polysomy

37
Q

Refers to an allele, or the corresponding phenotypic trait, that is expressed only in homozygotes

A

Recessive

38
Q

Type of RNA molecule that is a component of the ribosomal subunits

A

Ribosomal RNA (rRNA)

39
Q

Chromosome that plays a role in the determination of sex

A

Sex Chromosome

40
Q

Mutation arising in a somatic cell

A

Somatic mutation

41
Q

Process by which the information contained in a template strand of DNA is copied into a single stranded RNA molecule of complementary base sequence

A

Transcription

42
Q

Small RNA molecule that translates a codon into an amino acid in protein synthesis; has 3 base sequence called anticodon, complementary to a specific codon in mRNA, and a site to which a specific amino acid is bound

A

Transfer ribonucleic acids (tRNA)

43
Q

Process by which the amino acid sequence of a polypeptide is synthesized on a ribosome according to the nucleotide sequence of an mRNA molecule

A

Translation

44
Q

Mutation results from an exchange of parts of 2 chromosomes

A

Translocation

45
Q

Disorder in which a normally diploid organism has an extra copy of one of the chromosomes

A

Trisomy

46
Q

Protein that doesn’t achieve its full length or proper form, and missing some of the amino acid residues that are present in a normal protein.

A

Truncated protein

47
Q

Monosomy syndrome that results when an ovum lacking the X chromosome is fertilized by a sperm that contains an X chromosome. May also occur when a genetically normal ovum is fertilized by a sperm lacking an X or Y chromosome.

A

Turner Syndrome

48
Q

Gene that codes for a protein involved in chloride and water transport across membranes. In pts with cystic fibrosis, a mutation in this gene disrupts chloride and water transport. End result is production of thick and sticky mucus that obstructs the airways int he lungs and the ducts in the pancreas

A

CFTR gene

49
Q

Use of differentially labeled, chromosome specific DNA strands for hybridization with chromosomes to label each chromosome with a different color

A

Chromosome painting

50
Q

Mating between related individuals

A

Consanguineous

51
Q

Congenital metabolic disorder, inherited as an autosomal recessive trait, in which secretions of exocrine glands are abnormal. Na and Cl content of sweat are increased throughout the pts life.

A

Cystic Fibrosis

52
Q

Chromosome complement of a cell or organism; often represented by an arrangement of metaphase chromosomes according to their lengths and the positions of their centromeres

A

Karyotype

53
Q

Proportion of organisms having a particular genotype that actually express the corresponding phenotype.

A

Penetrance

54
Q

Enzyme that converts phenylalanine to tyrosine and that is defective in phenylketonuria

A

Phenylalanine hydroxylase (PAH)

55
Q

Hereditary human condition resulting from inability to convert phenylalanine into tyrosine. Causes severe mental retardation unless tx in infancy and childhood by a low-phenylalanine diet

A

Phenylketonuria (PKU)

56
Q

Repeated cycles of DNA denaturation, renaturation with primer oligonucleotide sequences, and replication, resulting in exponential growth in the number of copies of the DNA sequence located between the primers.

A

Polymerase chain reaction (PCR)

57
Q

Labeled DNA or RNA molecule used in DNA-RNA or DNA-DNA hybridization assays

A

Probe

58
Q

Membrane that forms a fluid filled sac around the embryo

A

Amnion

59
Q

An early stage of embryo development, which can be recognized through the presence of an inner cell mass

A

Blastocyst

60
Q

Outer layer of cells in the embryo, after establishment of the 3 primary germ layers. The germ layer comes in contact with the amniotic cavity.

A

Ectoderm

61
Q

Developing human within the first 2 months after conception

A

Embryo

62
Q

Innermost of the 3 primary germ layers of the embryo. Epithelial lining of the primitive gut tract and the epithelial component of the glands and other structures

A

Endoderm

63
Q

Development of relatively mild degrees of mental deficiency and emotional disorders in children whose mothers use alcohol during pregnancy

A

Fetal alcohol effect

64
Q

Condition marked by an excessive accumulation of CSF, resulting in dilation of the cerebral ventricles and raised intracranial pressure; it may also result in enlargement of the cranium and atrophy of the brain

A

Hydrocephalus

65
Q

Cells at the embryonic pole of the blastocyst, which are concerned with formation of the body of the embryo

A

Inner cell mass

66
Q

Middle of the 3 primary germ layers of the embryo. Origin of connective tissues, myoblasts, blood, cardiovascular, and lymphatic systems

A

Mesoderm

67
Q

Abnormal smallness of the head; a term applied to a skill with a capacity less than 1350 mL, usually associated with mental retardation

A

Microcephaly

68
Q

Earliest stage of embryo after cell division, consisting of a ball of identical cells

A

Morula

69
Q

Formation of organs during development

A

Organogenesis

70
Q

Group of chemical messengers that communicate with neighboring cells by simple diffusion

A

Paracrines

71
Q

Process of birth

A

Parturition

72
Q

Defective development of arms or legs, or both, so that the hands and feet are attached close to the body, resembling flippers

A

Phocomelia

73
Q

Structure consisting of maternal and fetal tissues that allows for exchange of gases, nutrients, and wastes between mother’s and the fetus’ circulatory system

A

Placenta

74
Q

Occurrence of cavities in the brain substance, communicating usually with the lateral ventricles

A

Porencephaly

75
Q

Cell layer covering the blastocyst that erodes the uterine mucosa and through which the embryo receives nourishment from the mother. Cells do not enter into the formation of the embryo itself, but rather contribute to the formation of the placenta

A

Trophoblast

76
Q

Sac of extra embryonic membrane that is located ventral to the embryonic disk and after formation of the gut tube is connected to the midgut; by the second month of development, this connection has become the narrow yolk stalk.

A

Yolk Sac

77
Q

Fertilized ovum before cleavage begins

A

Zygote

Medical Genetics (3 decks)

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