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BIO 101 TEST 4 > test 4 > Flashcards

test 4 Flashcards

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1
Q

achondroplasia

A

Achondroplasia is the most common form of skeletal dysplasia, occurring in about one in every 40,000 births. Achondroplasia impairs the growth of bone in the limbs and causes abnormal growth in the spine and skull.

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2
Q

autosome

A

any chromosome that is not a sex chromosome.

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3
Q

Autosomal dominant disorders

A

Autosomal dominant is a pattern of inheritance characteristic of some genetic disorders. Genetic disorders that follow a pattern of autosomal dominant inheritance include:
Huntington’s disease.
Marfan syndrome.
Achondroplasia.

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4
Q

Autosomal recessive disorders

A

Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. Examples of autosomal recessive disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.

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5
Q

BRCA1 and BRCA2

A

BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent.

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6
Q

chromosome theory of inheritance

A

that genes are found at specific locations on chromosomes, and that the behavior of chromosomes during meiosis can explain Mendel’s laws of inheritance.

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7
Q

cri du chat

A

Cri du chat syndrome is a rare genetic disorder caused by missing pieces on a particular chromosome. It is not the result of anything the parents have done or failed to do. The characteristics of a newborn with cri du chat syndrome include a high-pitched cry, a small head and a flattened bridge of the nose.

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8
Q

crossing-over

A

the exchange of genes between homologous chromosomes, resulting in a mixture of parental characteristics in offspring.

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9
Q

Cystic Fibrosus

A

Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It’s an inherited disease caused by a defective gene that can be passed from generation to generation.

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10
Q

deletion

A

a type of mutation that involves the loss of one or more nucleotides from a segment of DNA.

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11
Q

duplication

A

type of mutation in which one or more copies of a DNA segment (which can be as small as a few bases or as large as a major chromosomal region) is produced.

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12
Q

genetic carrier

A

Carrier
A carrier, as related to genetics, is an individual who “carries” and can pass on to its offspring a genomic variant (allele) associated with a disease (or trait) that is inherited in an autosomal recessive or sex-linked manner, and who does not show symptoms of that disease (or features of that trait).

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13
Q

genetic linkage

A

the close location of genes or other DNA markers to each other on chromosomes. The closer the genes are to each other on a chromosome, the more likely they are linked or inherited together from parents to offspring.

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14
Q

Histone proteins

A

A histone is a protein that provides structural support for a chromosome.

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15
Q

Huntington’s disease

A

an inherited disorder that causes nerve cells (neurons) in parts of the brain to gradually break down and die.

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16
Q

Hemophilia A

A

a hereditary hemorrhagic disorder resulting from a congenital deficit of factor VIII that manifests as protracted and excessive bleeding either spontaneously or secondary to trauma.

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17
Q

independent assortment of chromosomes

A

The alleles of two (or more) different genes get sorted into gametes independently of one another.

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18
Q

inversion

A

An inversion in a chromosome occurs when a segment breaks off and reattaches within the same chromosome, but in reverse orientation.

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19
Q

locus

A

a term that we use to tell us where on a chromosome a specific gene is.

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20
Q

Muscular dystrophy

A

a group of diseases that cause progressive weakness and loss of muscle mass.

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21
Q

Nondisjunction

A

he failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during nuclear division, usually resulting in an abnormal distribution of chromosomes in the daughter nuclei.

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22
Q

Parkinson’s Disease

A

brain disorder that causes unintended or uncontrollable movements, such as shaking, stiffness, and difficulty with balance and coordination.

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23
Q

pedigree

A

a chart that diagrams the inheritance of a trait or health condition through generations of a family.

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24
Q

PKU disease

A

n inherited disorder that increases the levels of a substance called phenylalanine in the blood.

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25
Q

Prader- Willi Syndrome

A

is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), a weak suck and feeding difficulties with poor weight gain and growth and other hormone deficiency.

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26
Q

random fertilization

A

during sexual reproduction, the male gamete and female gamete that fuse to produce an offspring are selected randomly from the pool of male and female gametes.

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27
Q

Red-Green color blindness

A

It makes certain shades of green look more red.

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28
Q

sex chromosome

A

a type of chromosome involved in sex determination.

29
Q

sex-linked traits

A

hemophilia, red-green color blindness, congenital night blindness, some high blood pressure genes, Duchenne muscular dystrophy, and also Fragile X syndrome.7 days ago

30
Q

somatic gene mutation

A

A somatic mutation describes any alteration at the cellular level in somatic tissues occurring after fertilization.

31
Q

SRY gene

A

This protein is involved in male-typical sex development, which usually follows a certain pattern based on an individual’s chromosomes.

32
Q

SWYR Syndrome

A

In Swyer syndrome, individuals have one X chromosome and one Y chromosome in each cell, which is the pattern typically found in boys and men; however, they have female reproductive structures . People with Swyer syndrome have female external genitalia and some female internal reproductive structures.

33
Q

Tay Sacs Disease

A

A rare, inherited disorder that destroys nerve cells in the brain and spinal cord.

34
Q

test cross

A

a test cross is a device that can be used to infer the Mendelian alleles present in parental gametes based on the observation of offspring phenotypes.

35
Q

translocation

A

A translocation, as related to genetics, occurs when a chromosome breaks and the (typically two) fragmented pieces re-attach to different chromosomes.

36
Q

Trisomy 21

A

Down syndrome

37
Q

Turner’s Syndrome

A

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.

38
Q

Klinefelter Syndrome

A

Boys with Klinefelter syndrome might have some or all of these physical signs: a taller, less muscular body than other boys their age. broader hips and longer legs and arms. larger breasts

39
Q

Jacob’s disease XYY

A

taller than average height. low muscle tone, or muscle weakness (called hypotonia) very curved pinky finger

40
Q

XXX Syndrome

A

a genetic disorder that affects about 1 in 1,000 females. Females normally have two X chromosomes in all cells — one X chromosome from each parent. In triple X syndrome, a female has three X chromosomes.

41
Q

X-linked traits

A

X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.

42
Q

Y-linked traits

A

the Y chromosome also carries genes other than for sex determination. Hypertrichosis of the ears, webbed toes, and porcupine man are examples of Y-linked inheritance in humans.

43
Q

Rosalind Franklin

A

Discovered the structure of DNA

44
Q

James Watson and Francis Crick

A

Deciphered the physical structure. won the Nobel Prize for discovering that DNA is built from two helically
wound polynucleotides (the double helix).

45
Q

What are the four nucleic acids?

A

thymine (T), cytosine (C), adenine (A) and guanine (G)

46
Q

How does the double helix get formed

A

DNA is
deoxyribonucleic acid
that is composed of
nucleic acids

47
Q

What is DNA’s 5-carbon sugar?

A

Deoxyribose

48
Q

2 Nitrogenous bases?

A

Pyrimidines and Purines

49
Q

What are the bonding pairs of DNA

A

A to T and C to G

50
Q

What does the double stranded DNA contain?

A

One strand contains the code and the other strand contains the template for the code

51
Q

What do the two strands of DNA need to form hydrogen bonds?

A

they need to run antiparallel

52
Q

What is it called when additional hydrogen bonds cause the DNA strands to
twist around each other

A

double helix

53
Q

histone proteins

A

Short lengths of DNA are wound
around histone proteins to create
a bead-on-a-string structure that
is further compressed into a
looped fiber

54
Q

What happens to DNA during cell division?

A

During cell division, DNA
condenses into shorter, thicker
chromosomes, the highest level of
packing a chromosome can
acquire.

55
Q

What is referred to as a “loose ball of yarn?” It is in eukaryotes

A

chromatin

56
Q

Where does DNA store information?

A

the Order of the Bases
in the Polynucleotide Chain

57
Q

Genetic Variation

A

Differences in nitrogen base
sequences in DNA account

58
Q

Why is one gene different from the other

A

because the two have different DNA nucleotide sequences.

59
Q

Euchromatin

A

is the coding region of the chromosome; approximately 1 % of
the nitrogen bases

60
Q

Promoters

A

provide binding sites for the protein machinery that carries out
transcription. Promoters are typically found just ahead of the gene on the
DNA strand.

61
Q

Enhancers

A

provide binding sites for proteins that help activate
transcription. Enhancers can be found on the DNA strand before or after
the gene they control, sometimes far away.

62
Q

Silencers

A

provide binding sites for proteins that repress transcription. Like
enhancers, silencers can be found before or after the gene they control
and can be some distance away on the DNA strand.

63
Q

Insulators

A

provide binding sites for proteins that control transcription in a
number of ways. Some prevent enhancers from aiding in transcription
(enhancer-blocker insulators). Others prevent structural changes in the
DNA that repress gene activity (barrier insulators). Some insulators can
function as both an enhancer blocker and a barrier.

64
Q

Noncoding DNA

A

is DNA that does not code for any kind of functional RN

65
Q

Noncoding DNA that separates one gene from another is called

A

spacer dna

66
Q

Transposons

A

are sequences that can move from one position on a chromosome to another,
or even from one chromosome to another, and may disrupt a gene’s function in the process

67
Q

Introns

A

are noncoding sections interspersed with the coding regions of a gene or exons.

68
Q
A

BIO 101 TEST 4 (1 decks)

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