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39 Cards in this Set

  • Front
  • Back

How is hereditary material carried in the human body?

chromosomes

genes

functional units of heredity consisting of DNA sequences that code for specific amino acids and thus for formation of specific proteins

chromosomes

classified by structure and banding pattern

homologous pairs

chromosomes common to both sexes

alleles

alternative form of a gene, one member of a pair

homozygous

If both alleles are the same, they and the organism are homozygous with respect to that gene.

heterozygous

When the alleles of a pair are heterozygous, one is dominant and the other is recessive.

karyotype

number and appearance of chromosomes in the nucleus of a eukaryotic cell

crossing over

exchange of genetic material between homologous chromosomes that results in recombinant chromosomes

phenotype

observable physical or biochemical characteristics of an organism

genotype

genetic makeup of a cell, an organism

mitosis

leads to the production of two daughter cells identical in chromosome number to the parent cell

meiosis

leads to the production of four daughter cells, but each containing only half the number of chromosomes of the parent cell

single gene-inheritance

autosomal, x-linked, complex

dominant trait

the trait is expressed if the dominant allele is present on at least one of the pair chromosomes

recessive trait

can be expressed only when the allele responsible for that trait is present on both chromosomes or when the dominant allele is not present


(ex: x-linked genes in the XY male)

Why do recessive traits become more common with consanguineous matings?

recessive characteristic can only be seen in the children of a heterozygous parent

consanguineous

between relatives

x-linked traits

genes on the x chromosome

examples of x-linked traits

red-green color blindness, hemophilia A, hemophilia B, Duchenne muscular dystrophy, Becker's mescular dystrophy, Coffin-Lowry syndrome, Blue cone monochromacy, Barth syndrome

Testicular development of the indifferent gonad occurs regardless of whether viable _______ _______ are present.

germ cells

However, the germ cells must be present for the ____________ to differentiate.

ovaries

multifactoral inheritance

due to the interaction of genetic and environmental factors

Multifactoral inheritance includes traits such as __________ and ____.

height, BP

Multifactoral disorders include birth defts such as

neural tube defects, some congenital heart defects, congenital dislocated hips, cleft lip and palate, pyloric stenosis

developmental disorder

error in meitotic division

In the case of formation of gametes with a trisomy or monosomy, one gamete will have 24 chromosomes and the other will have only ____.

22

Nondisjunction is more likely to occur during the recombination that takes place during the first ___________ division.

meiotic

trisomy

presence of an extra chromosome

monosomy

one member of a pair of chromosomes is missing

mosaicism

When mitotic nondisjunction occurs later in development some cell lines have an abnormal number.

What are the possible results of non-disjunction of the sex chromosome?

Klinefelter syndrome, extra Y chromosome, Tuner syndrome

translocation

occur following breaks in one or more chromosomes, genetic material is transferred from one chromosome to another

A balanced translocation occurs when chromosomes exchange pieces and no genetic material is ______.

lost

If material is gained or lost, that is considered an _________ ___________.

unbalanced translocation

Those with unbalanced translocations may have multiple __________.

anamolies

__________ _____________ is due to translocations, most commonly between chromosomes 14 and 21.

Down syndrome

Depending on which combination of 21 and 14 chromosomes are transferred to the gametes, this individual can produce normal, carrier, monosomic, or _________ offspring.

trisomic

Down syndrome is due to _______________, most commonly between chromosomes 14 and 21.

translocations