Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Clinical Genetics > Exam 1 Vocabulary > Flashcards

Exam 1 Vocabulary Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

Allele

A

any of the alternate forms of a given gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Amniocentesis

A

a prenatal test in which a small sample if this amniotic fluid surrounding the fetus is removed and examined (downs-trisomy), is performed 15-20 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Aneuploidy

A

a condition in which extra or fewer copies of particular genes or chromosomes regions are present compared with the wild type, fewer or more than 46 chromosomes (3 types) is caused by nondisjunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Autosomal Dominant

A

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. Individuals with autosomal dominant diseases have a 50:50 chance of passing the mutant gene-and, therefore, the disorder-on to each of their children.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Autosomes

A

all chromosomes other than the sex chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Chorionic villus sampling (CVS)

A

a prenatal test that involves taking a tiny tissue sample from outside the sac where the fetus develops. It is performed between 10-12 weeks after a now-pregnant woman’s last menstrual period. Has a higher risk than amniocentesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Chromosomal aberration

A

alteration in the number or physical structure of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Chromosome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Codon

A

a sequence of three adjacent nucleotides in an mRNA molecule, specifying either an amino acid or a stop signal in proteins synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Consanguinity

A

degree of relationship between persons who descend from a common ancestor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Degenerate

A

a feature of the genetic code in which an amino acid corresponds to more than one codon (therefore nucleotide substitution does not alter the amino acid sequence of the protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Deletion

A

loss of chromosomal material

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Deoxyribonucleic Acid (DNA)

A

a macromolecule usually composed of two polynucleotide chains in a double helix that is the carrier of genetic information in all cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Dominant

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Down Syndrome

A

a chromosomal dysgenesis syndrome consisting of a variable constellation of abnormalities caused by triplication or translocation of chromosomal 21. Affected individual have some degree of mental retardation, characteristic of facial features, and, often, heart defects and other health problems

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Gene

A

a 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; the hereditary unit

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Genomics

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Germinal mutation

A

a mutation that take place in a reproductive cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Hemizygous

A

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 chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Heterozygous

A

carrying dissimilar alleles of one or more genes; no homozygous

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Homozygous

A

having the same allele of a gene in a homologous chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Inborn errors of metabolism

A

a genetically determined biochemical disorder; usually in the form of a enzyme defect that produces a metabolic block

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Inversion

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Klinefelter syndrome

A

a disorder that occurs when an ovum with an extra X chromosome is fertilized by a sperm with a Y chromosome. This results in an XXY genotype male who is sterile

25
Q

Locus

A

the site or position of a particular gene on a chromosome

26
Q

Mendelian genetics

A

the mechanism of inheritance in which the statistical relations between the distribution of traits in successive generations results from three factors, (1) particulate hereditary determinants, (genes) (2) random union of gametes, and (3) segregation of unchanged hereditary determinants in the reproductive cells ( Phenotypes due to alterations at a single gene)

27
Q

Messenger ribonucleic acid (mRNA)

A

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

28
Q

Mitochondrial chromosomes

A

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

29
Q

Monogenic

A

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

30
Q

Monosomy

A

a condition in an otherwise diploid organism in which one member of a chromosomal pair is missing

31
Q

Mutation

A

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

32
Q

Nondisjunction

A

failure of chromosomes to separate (disjoin) and move to opposite pole of the division spindle; the results is loss or gain of a chromosome

33
Q

Pedigree analysis

A

a diagram representing the familial relationships among relatives

34
Q

Polygenic

A

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

35
Q

Polysomy

A

condition of a diploid cell or organism that has three or more copies of a particular chromosome

36
Q

Recessive

A

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

37
Q

Ribosomal RNA (rRNA)

A

a type of RNA molecule that is a component of the ribosomal subunit

38
Q

Sex Chromosomes

A

a chromosome, such as the human X or Y, that plays a role is sex determination

39
Q

Somatic mutation

A

a mutation arising in a somatic cell

40
Q

Transcription

A

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

41
Q

Transfer ribonucleic acids (tRNA)

A

a small RNA molecule that translates a codon into man amino acid in protein synthesis; it has a three-base sequence, called the anticodon, complementary to a specific codon in mRNA, and a site to which a specific amino acid is bound ( a small RNA molecule that contains a anticodon which is used to transfer a codon on an mRNA molecule into a protein)

42
Q

Translation

A

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

43
Q

Translocation

A

a mutation results from a exchange of parts of two chromosomes

44
Q

Trisomy

A

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

45
Q

Truncated proteins

A

a protein that does not achieve its full length or its proper form, and thus is missing some of the amino acid residues that are present in a normal protein. A truncated protein generally cannot perform the function for which it was intended because its structure is incapable of doing so

46
Q

Turner syndrome

A

a monosomy syndrome that results an ovum lacking the X chromosome is fertilized by a sperm that contains an X chromosome. It may also occur when a genetically normal ovum is fertilized by a sperm lacking an X or a Y chromosome. The result is an offspring with 22 pairs of autosomal and a single, unmatched X chromosome

47
Q

CFTR gene

A

a gene that encodes for a protein involved in chloride and water transport across membranes. In patients with cystic fibrosis, a mutation in this gene disrupts chloride and water transport across membranes. The end result is production of thick and sticky mucus that obstructs the airways in the lungs and the ducts in the pancreas

48
Q

Chromosome painting

A

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

49
Q

Consanguineous

A

mating between related individuals

50
Q

Cystic Fibrosis

A

a congenital metabolic disorder, inherited as an autosomal recessive trait, in which secretions of exocrine glands are abnormal. Excessively viscid mucus causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi), and the sodium and chloride content of sweat are increased throughout the patients life

51
Q

Inborn errors of metabolism

A

a genetically determined biochemical disorder; usually involving enzyme defects that produces a metabolic block

52
Q

Karyotype

A

the 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

53
Q

Penetrance

A

the proportion of organisms having a particular genotype that actually express the corresponding phenotype. If the phenotype is always expressed, penetrance is complete; otherwise, is it incomplete

54
Q

Phenylalanine hydroxylase (PAH)

A

the enzyme that converts phenylalanine to tyrosine and that is defective in phenylketonuria

55
Q

Phenylketonuria (PKU)

A

a hereditary human condition resulting form inability to convert phenylalanine into tyrosine. It causes severe mental retardation unless treated in infancy and childhood by low phenylalanine diet

56
Q

Polymerase Chain Reaction (PCR)

A

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

57
Q

Probe

A

a labeled DNA or RNA molecule used in DNA-RNA or DNA-DNA hybridization assays

58
Q

Sibling (sib)

A

a brother or sister, each having the same parents

Clinical Genetics (4 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions