Chapter 3 -- Genetics and Heredity Flashcards

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1
Q

Genotype

A

Total genetic endowment inherited by an individual

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2
Q

Phenotype

A

Observable and measurable characteristics and traits of an individual; a product of the interaction of the genotype with the individual

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3
Q

Gene

A

Large segment of nucleotides within a chromosome that codes for the production of proteins and enzymes. These proteins and enzymes underlie traits and characteristics inherited from one generation to the next

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4
Q

Allele

A

Alternative form of a specific gene; provides a genetic basis for many individual differences

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5
Q

Gamete

A

Sperm cells in males, egg cells in females, normally containing only 23 chromosomes

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6
Q

Chromosome

A

Threadlike structure of DNA, located in the nucleus of cells, which forms a collection of genes. A human body cell normally contains forty-six chromosomes

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7
Q

Human Genome

A

Entire inventory of nucleotide base pairs that compose the genes and chromosomes of humans

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8
Q

DNA

A

Long, spiral staircase-like sequence of molecules created by nucleotides identified with the blueprint for for genetic inheritance

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9
Q

Karyotype

A

Pictorial representation of an individual’s chromosomes

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10
Q

Autosomes

A

One of 22 pairs of homologous chromosomes. The two members of each pair are similar in size, shape, and genetic function. The two sex chromosomes are excluded from this class

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11
Q

X Chromosome

A

Larger of the two sex chromosomes associated with genetic determination of sex. Normally females have two X chromosomes and males, only one.

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12
Q

Y Chromosome

A

Smaller of the two sex chromosomes associated with genetic determination of sex. Normally males have one Y chromosome and females, none

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13
Q

Homozygous

A

Genotype in which two alleles of a gene are identical, thus having the same effects on a trait

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14
Q

Heterozygous

A

Genotype in which two alleles of a gene are different. The effects on a trait will depend on how the two alleles interact.

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15
Q

Dominant Allele

A

Allele whose characteristics are reflected in the phenotype even when part of a heterozygous genotype. Its genetic characteristics tend to mask the characteristics of other alleles

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16
Q

Recessive Allele

A

Allele whose characteristics do not tend to be expressed when part of a heterozygous genotype. Its genetic characteristics tend to be masked by other alleles.

17
Q

Polygenic

A

Phenotypic characteristic influenced by two or more genes

18
Q

Epigenetics

A

The field of study concerned with how environmental factors interact with DNA and its transcription into mRNA to influence cell functioning and the phenotype

19
Q

Williams Syndrome

A

Dominant genetic disorder involving the deletion of a set of genes, which results in affected individuals’ typically having a strong social orientation, good musical ability, and some unusual linguistic capabilities accompanied by intellectual impairment and severe deficits in numerical and spatial ability.

20
Q

Sickle Cell Disease

A

Genetic blood disorder common in regions of Africa and other areas where malaria is found among descendants of the people of these regions. Abnormal blood cells carry insufficient oxygen.

21
Q

Phenylketonuria

A

Recessive genetic disorder in which phenylalanine, an amino acid, fails to be metabolized. Unless dietary changes are made to reduce intake of phenylalanine, sever intellectual impairment occurs

22
Q

Fragile X Syndrome

A

disorder associated with a pinched region of the X chromosome; a leading genetic cause of intellectual impairment in males

23
Q

Down Syndrome/ Trisomy X

A

Disorder resulting from extra chromosomal material on pari number twenty one; associated with intellectual impairment and distinct physical features

24
Q

Amniocentesis

A

method of sampling the fluid surrounding the developing fetus through insertion of a needle; used to diagnose fetal genetic and developmental disorders

25
Q

Chorionic Villus Sampling

A

method of sampling fetal chorionic cells; used to diagnose embryonic genetic and developmental disorders

26
Q

Fetal Blood Sampling

A

method of withdrawing blood from the umbilical cord of the fetus; used to diagnose genetic disorders, especially those that affect the blood

27
Q

Maternal Blood Screening

A

tests performed on a woman’s blood to determine whether the fetus she is carrying has an increased risk for some types of chromosomal and metabolic disorders

28
Q

Ultrasonography

A

method of using sound wave reflections to obtain a representation of the developing fetus; used to estimate gestational age and detect fetal abnormalities

29
Q

Behavior Genetics

A

study of how characteristics and behaviors of individuals, such as intelligence and personality, are influenced by the interaction between genotype and experience

30
Q

Heritability

A

proportion of variability in the phenotype that is estimated to be accounted for by genetic influences within a known environmental range

31
Q

Concordance Rate

A

percentage of pairs of twins in which both members have a specific trait identified in one twin