Section 2 Flashcards

0
Q

What was the scientific objective of Mendel’s experiments?

A

To study how traits are transmitted over generations

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1
Q

In the nineteenth century, what was the dominant theory for how traits were inherited?

A

“blending inheritance”

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2
Q

What did Mendel study in Vienna?

A

Botany

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3
Q

What was the practical goal of Mendel’s experiments?

A

To learn if crossbreeding could produce a new, profitable form of crop for the monastery and landowners in face of competition from abroad

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4
Q

How many times did Mendel fail in getting his teaching certificate?

A

Twice

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5
Q

What organism did Mendel choose as the subject of his experiments?

A

Common garden pea

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6
Q

What is the scientific name of the common garden pea plant?

A

Pisum sativum

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7
Q

What turned out to be the key decision that helped Mendel revolutionize the field of genetics?

A

His decision to use the common garden pea plant

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8
Q

What traits of pea plants allowed Mendel to conduct large-scale self- or cross-pollination experiments?

A

1) traits that can be easily described and distinguished
2) easy to cultivate
3) reproduce quickly
4) pollination is easy to manipulate due to their relatively large sized flowers

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9
Q

What were the seven traits Mendel chose?

A

1) position of flower
2) color of flower
3) shape of pea pod
4) color of pea pod
5) shape of peas
6) color of peas
7) height of plant

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10
Q

What variety of plants did Mendel choose?

A

Several stocks of true-breeding varieties

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11
Q

How many traits were available for Mendel to pick from? How many did he pick?

A

34; he chose 7

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12
Q

What was significant about the traits Mendel chose?

A

They each had only two distinct variants

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13
Q

Mendel crossed and followed individual plants that differed in only ________ trait over several generations.

A

One

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14
Q

Between 1854 and 1865, how many plants did Mendel meticulously observe and document?

A

about 30,000

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15
Q

Every gene codes for the production of one or more ______.

A

proteins

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16
Q

Each ______ determines a particular trait, which is either expressed externally or is manifested internally as a complex network of metabolic reactions.

A

protein

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17
Q

All somatic cells in our body are ______.

A

diploid

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18
Q

What are chromosomes with the same complement of genes called?

A

homologous chromosomes

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19
Q

Homologous chromosomes have the same gene at a given ______.

A

locus

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20
Q

How do genes at a given loci compare?

A

they contain the same or a slightly different nucleotide sequence

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21
Q

The pairs of genes at a given loci are called?

A

alleles

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22
Q

If two alleles nucleotide sequences are virtually the same, they are called?

A

homozygous alleles

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23
Q

If alleles have different nucleotide sequences, they are called?

A

heterozygous alleles

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24
Q

In general, a ______ allele implies that the gene that codes for the particular trait is mutated in such a way that its protein product is defective.

A

recessive

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25
Q

Chromosomes 1 through 22 are _______ chromosomes.

A

autosomal

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26
Q

The 23rd pair of chromosomes are called the….

A

sex chromosomes

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27
Q

The paternal autosome #1 and the maternal autosome #1 are an example of what?

A

homologous chromosomes

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28
Q

In a test cross, if the hybridization experiment investigates only a single trait, it is called a…..

A

monohybrid cross

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29
Q

Which test cross investigates two traits simultaneously?

A

a dihybrid cross

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30
Q

Mendel was the first person to systematically apply ________ in predicting and analyzing results in the study of genetics.

A

mathematical principles

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31
Q

What were the two rules of probability Mendel used were?

A

The product (multiplication) rule and the sum (addition) rule

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32
Q

The third mathematical rule Mendel used was?

A

binomial theorem

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33
Q

What was the ratio Mendel consistently identified?

A

3:1

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34
Q

What act of Mendel marked the birth of modern population genetics?

A

he counted the number of plants with each phenotype

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35
Q

What did Mendel name his “heritable factor”?

A

an allele

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36
Q

Mendel’s observation that in his F1 generation, one allele was responsible for the dominant phenotype and another for the recessive phenotype, came to be known as?

A

Mendel’s law of dominance

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37
Q

“The pair of alleles in any combination has to be temporarily separated and then re-combined during fertilization.” This observation of Mendel came to be known as?

A

his law of segregation

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38
Q

The law of _______ states, “each pair of alleles for a particular characteristic at a given locus segregates independently of alleles at other loci.”

A

Mendel’s law of independent assortment

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39
Q

What was the name of the obscure local journal Mendel published his work in, where it received little attention? What year?

A

Experiments on Plant Hybridization in 1866

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40
Q

How many decades passed before Mendel’s work was rediscovered?

A

3 decades

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41
Q

What was Mendel’s first major contribution?

A

his rejection of the “blending inheritance” idea

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42
Q

What was Mendel’s second major contribution?

A

He realized that each gene that controls a certain trait comes in two forms, called alleles.

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43
Q

What was Mendel’s third major contribution?

A

his prediction that one allele may dominate over the other

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44
Q

What was Mendel’s fourth and most important major contribution?

A

By proposing the law of segregation, he laid the foundation for the understanding of how meiosis works.

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45
Q

It is the ______ that dictates the expression of a particular trait.

A

protein

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46
Q

The segregation of homologous chromosomes during gamete formation was not completely understood until shortly before _________, with the work of ___________.

A

WWI; Thomas Morgan

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47
Q

During gamete formation, the sperm/egg becomes ________.

A

haploid

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48
Q

In meiosis, each pair of homologous chromosomes is separated from each other during _________.

A

Anaphase I

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49
Q

A hybridization experiemtn in which two plants being crossed are hybrid for two independent traits is called a ______ cross.

A

dihybrid cross

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50
Q

Mendel’s fifth and final major contribution was?

A

his hypothesis that two distinct traits would be sorted into separate gametes independent of each other (law of independent assortment)

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51
Q

The chances that two genes that are not linked will be packaged together during meiosis and transmitted to the offspring is highly _______.

A

unlikely

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52
Q

Mendel focused on one to a maximum of ______ traits at anyone time.

A

3

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53
Q

Mendel was elected to the position of ______ (equivalent to a bishop) in the monastery in 1868 and became heavily burdened with _________.

A

prelate; administrative duties

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54
Q

Mendel indicated he was “convinced it [his work] will be appreciated before by the whole world,” prior to his death in ______.

A

1884

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55
Q

How many years after Mendel’s death did Hugo de Vries launch a plant-breeding program?

A

Six years

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56
Q

Now, almost _____ years later, the paper that was ignored by most of Mendel’s contemporaries is still considered one of a handful of seminal studies that have revolutionized biology.

A

150 yrs

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57
Q

Mendel’s results were repeated and confirmed by other scientists using different models and eventually led to the formation of _________.

A

the theory of genetics

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58
Q

Of the seven traits Mendel selected to study, non affected the ________ of the plants.

A

Survival

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59
Q

Earlobe attachment, widow’s peak, and hitch-hikers thumb in humans are example of what kind of traits?

A

single gene controlled traits

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60
Q

What year was the human genome project completed?

A

2003

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61
Q

Consensus among scientists working on ___________ has been that “All diseases have a genetic component, whether inherited or resulting from the body’s response to environmental stresses like viruses or toxins.”

A

The Human Genome Project

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62
Q

When did Archibald Edward Garrod describe the first disease linked to genes? What was the name of this disease?

A

1902; it was called alkaptonuria

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63
Q

What is the alternate name for alkaptonuria?

A

Black urine disease

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64
Q

Alkaptonuria is an autosomal ________ condition in which the gene responsible for the the enzyme involved in the metabolism of an amino acid is mutated, and thus the enzyme becomes defective.

A

recessive

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65
Q

To signify the genetic nature of the disease, Garrod called alkaptonuria an “________________.”

A

inborn error of metabolism

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66
Q

Cystic fibrosis is what kind of genetic disease?

A

homozygous recessive

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67
Q

This disease occurs when a gene that codes for a channel (transport) protein located on the surface of most cells is mutated and results in the accumulation of thick and sticky mucous in the breathing passages of the lungs and the lining of the digestive system.

A

Cystic fibrosis

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68
Q

Which disease is the most common genetic disease in the US?

A

Sickle cell anemia

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69
Q

Which genetic disease affects one in four hundred African Americans?

A

Sickle cell anemia

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70
Q

A single _______ substitution results in the wrong amino acid being added to hemoglobin and causes the protein to be folded incorrectly in sickle cell anemia.

A

nucleotide

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71
Q

What shape is a normal red blood cell?

A

donut shaped

72
Q

What is problematic about a sickle shaped red blood cell?

A

It is too large to squeeze through the tiny terminal blood vessels called capillaries.

73
Q

Which homozygous recessive disease affects one in 3,500 Ashkenazi Jews?

A

Tay-Sachs disease

74
Q

Tay-Sachs disease affects the enzyme responsible for _________ metabolism?

A

Lipid

75
Q

Which disease results in neural impulses not being transmitted correctly and can cause paralysis, blindness, deafness, and a variety of neurological disorders?

A

Tay-Sachs disease

76
Q

Many of our brain cells are covered by a _________ coat.

A

Lipid

77
Q

In the context of homozygous recessive diseases, individuals who are heterozygous to this gene are phenotypically normal and are called _________.

A

carriers

78
Q

How many genes are in a haploid human cell?

A

22,000

79
Q

How many alleles are in a haploid human cell?

A

44,000

80
Q

The size of each gene averages about _______ nucleotides.

A

3,000

81
Q

To construct a __________, the genotypes of the parents must be implicitly or explicitly given.

A

Punnett square

82
Q

When using a Punnett square for a dihybrid cross, keep in mind that the two genotypes each segregate ________.

A

independently

83
Q

In genetics, the circumstance in which the phenotype of the heterozygote is completely identical to the phenotype of the dominant homozygote is referred to as?

A

complete dominance

84
Q

The circumstance which is marked by no single trait being dominant or recessive is known as?

A

incomplete dominance

85
Q

Incomplete dominance occurs because some traits are dependent on how robust the ________ product is.

A

Protein

86
Q

Which pattern of inheritance is similar to the now rejected idea of blending inheritance?

A

incomplete dominance

87
Q

The pattern of inheritance in which the heterozygote displays phenotypes that show a range of intermediate phenotypes between the two extremes?

A

incomplete dominance

88
Q

One human disease that illustrates incomplete dominance is a condition called?

A

familial hypercholesterolemia

89
Q

In FH, abnormally high cholesterol in the blood, which is inherited as an autosomal _______ trait.

A

dominant

90
Q

In the US, it is estimated that 1 in _____ individuals carries a defective allele that places them among a group at high risk for developing __________, ___________, and ___________ later in life.

A

500; high cholesterol, hypertension, and cardiovascular disease

91
Q

In what year and where was the fourteen year old familial hypercholesterolemia patient hospitalized?

A

1970 at the Southwest Medical Center in Dallas

92
Q

What incidence lead doctors to believe the pattern of inheritance may not be limited to simple dominant-recessive relationships?

A

The appearance and identification of the first case of familial hypercholesterolemia

93
Q

Cholesterol is considered an indispensable component of what?

A

the plasma membrane

94
Q

What is the raw material used for the synthesis of all sex steroids?

A

cholesterol

95
Q

What is the name given to our cells ability to synthesize cholesterol on site through an elaborate and energy-consuming process?

A

de novo (on site, inside the cell)

96
Q

Our cells prefer to acquire cholesterol from where?

A

our diet

97
Q

Why can cholesterol not be transported in blood by itself?

A

its a lipid which is not soluble in blood

98
Q

Which organ packages cholesterol molecules inside large proteins for transport and delivery to all cells?

A

the liver

99
Q

The protein-cholesterol complex produced by the liver is called?

A

LDL cholesterol

100
Q

What does LDL stand for?

A

low-density lipoprotein

101
Q

What is the name of a cell’s “mailbox” that will recognize and process the macromolecule LDL?

A

LDL receptor

102
Q

When LDL carries a load of thousands of cholesterol molecules and binds to the LDL receptor, the entire complex clusters into a specific region on the cell surface called what?

A

coated pits

103
Q

What happens when a mutation occurs in the LDL receptor gene?

A

The LDL-cholesterol complex stays in the blood and tends to clog up the arteries.

104
Q

ABO blood typing follows a pattern called…

A

co-dominance

105
Q

The product of the alleles determining blood type is a membrane protein with two different types of sugar molecules attached to the extracellular portion of the protein. This product is called?

A

a glycoprotein

106
Q

Landsteiner noticed that the red blood cells of some individuals clumped up when mixed with the ______ from another individual.

A

serum (liquid part of the blood)

107
Q

Landsteiner studied the patterns of _______ and demonstrated that blood could be divided into groups or types.

A

agglutination (clumping of RBC)

108
Q

________are expressed on the surface of cells, whereas ________ are found in the bloodstream.

A

antigens; antibodies

109
Q

What are the two antigens that could possibly be found on human RBCs?

A

A antigen and/or B antigen

110
Q

What are the two antibodies that could possibly be found in human blood?

A

anti- A antibodies and/or anti-B antibodies

111
Q

Mixing an antigen with its respective antibodies would result in what?

A

severe anemia that leads to oxygen deficiency and eventually death

112
Q

Which blood type has neither A nor B antigen but has both anti-A and anti-B antibodies?

A

OO

113
Q

Which blood type has B antigen and anti-A antibodies?

A

BB or BO

114
Q

Which blood type has A antigen and anti-B antibodies?

A

AA or AO

115
Q

Which blood type has both A & B antigen but neither anti-A or anti-B antibodies?

A

AB

116
Q

Which blood type is the universal donor (can donate to any blood type)?

A

OO

117
Q

Which blood type can only receive transfusions from its own blood type?

A

OO

118
Q

Before DNA fingerprinting techniques became available in 1984, _______ was the standard scientific method used to identify specific phenotypes in paternity legal cases.

A

ABO blood typing

119
Q

Rh factor was first identified in which animal?

A

Rhesus monkey (Rh)

120
Q

Rh is considered another _______ expressed on the surface of RBCs.

A

antigen

121
Q

Rh is a ______ _________ trait.

A

simple dominant

122
Q

What is the only one condition in which Rh factor may lead to a life/death situation?

A

In the second pregancy of an Rh- mother who is giving birth to Rh+ offspring.

This is because during the first pregnancy the placenta pulls away from the endometrium causing bleeding and introducing the mothers immune system to the baby’s RBC. The mothers immune system produces anti-RH+ antibodies that would threaten the second pregnancy.

123
Q

In relation to Rh factor, which is the dominant phenotype? + or - ?

A

positive (+)

124
Q

What’s the treatment for Rh incompatibility?

A

an injection of anti-Rh antibodies

125
Q

Rh compatibility can be detected with what? Who should have this test done?

A

a simple blood test; pregnant women

126
Q

The phenomenon in which a single gene contributes to multiple, unrelated phenotypic traits is known as?

A

pleiotropy

127
Q

Color is the result of the production of certain _________ molecules.

A

pigment

128
Q

If pigment molecules are not produced, what color will result?

A

white

129
Q

In what condition is the enzyme responsible for production of the brown pigment molecule melanin defective because its gene has mutated?

A

albinism

130
Q

What type if inheritance refers to cases where a single phenotype is under control of multiple genes?

A

polygenic inheritance

131
Q

Height, weight, and skin color are examples of what kind of inheritance?

A

polygenic

132
Q

Hundreds of genetic variants in at least 180 loci are associated with human ________.

A

height

133
Q

Polygenic inheritance is seen in the genetic factors of what cancer?

A

breast cancer

134
Q

What are the two mutated genes associated with high-risk of breast cancer

A

BCRA1 and BCRA2

135
Q

Less than _____ percent of breast cancer cases are due to mutation of the BCRA1 and BCRA2 genes.

A

10%

136
Q

BCRA1 and BCRA2 are present in less than ____ percent of the general population.

A

<1%

137
Q

While the pattern of _______ inheritance is complex, the probability of inheritance for each individual gene and allele still follows the same laws worked out by Mendel.

A

polygenic

138
Q

Linked genes do not follow the law of?

A

Independent assortment

139
Q

How many chromosomes did the pea plants that Mendel used have?

A

Seven

140
Q

Which specific chromosomes did Thomas Morgan link trait inheritance to?

A

the sex chromosomes

141
Q

In Morgan’s fruit flies, which gender had the white colored eyes, which had the red colored eyes

A

Male- white eyes, Female- red eyes

142
Q

Morgan suspected that the pattern of inheritance of the ____ chromosome was different than that of the autosome.

A

X chromosome

143
Q

If two genes are very close together than, a crossover is ______ in the region between them.

A

unlikely

144
Q

Sturtevant produced the first chromosome map from what species?

A

Drosophila

145
Q

The measurement for the distance between genes is called?

A

a genetic map unit

146
Q

___________ has been used to identify the location of many genes that cause genetic disease.

A

Linkage mapping

147
Q

In most cases, sex determination is genetic, but what other factors play a role in some species?

A

temperature, environmental chemicals, and social structure

148
Q

Which chromosome determines the male sex?

A

Y

149
Q

Which gene on the Y chromosome is essential in controlling male traits?

A

SRY (sex reversal Y)

150
Q

The undifferentiated gonad in humans is destined to become ________ unless told otherwise.

A

the ovary

151
Q

At what point of gestation is sex determination?

A

Around two months

152
Q

The undifferentiated human embryo has a pair of gonads that will become the ovaries plus both sets (male and female) of what?

A

reproductive tracts

153
Q

Human eye color is a ________ type of inheritance?

A

Polygenic

154
Q

Which genes determine the detection of wavelength light spectra in the visible light range?

A

Opsin genes

155
Q

Mutation in the opsin genes causes what?

A

Colorblindness

156
Q

What is the most common type of colorblindness?

A

red-green

157
Q

Inheritance of colorblindness occurs via and ____-linked recessive allele?

A

X

158
Q

Who is more likely to be colorblind?

A

Males

159
Q

Why are males more susceptible to colorblindness?

A

Since males have only one X chromosome, the inheritance of a defective X from either parent will result in colorblindness.

160
Q

At what ratio does colorblindness affect males versus females?

A

10:1

161
Q

How many genes are located on the Y chromosome

A

Less than 200, considered small

162
Q

A trait determined by a Y-linked gene is passed down from who to who?

A

Father to son to grandson, etc.

163
Q

The Y chromosome can be used to trace what?

A

Male lineage

164
Q

The DNA from which two organelles does not follow Mendelian laws?

A

Mitochondria and chloroplasts

165
Q

When wanting to trace male lineage, which is the best substance of choice?

A

mitochondrial DNA

166
Q

Where is mitochondrial DNA from the male located?

A

in the middle part of the sperm

167
Q

_______ analysis helps genetic counselors identify the carriers of a disease and determine the risk of developing or passing on traits where a single gene is responsible.

A

Pedigree

168
Q

Where can chromosomal analysis be performed on babies?

A

in utero

169
Q

What does “in utero” mean?

A

in the womb

170
Q

The odds of having a baby with chromosomal abnormality is dramatically increased when the mother is over what age?

A

Over 35

171
Q

The test in which fetal cells are removed?

A

karyotyping

172
Q

What are the two methods of karyotyping?

A

amniocentesis and chorionic villus sampling (CVS)

173
Q

In which karyotyping method is a long needle inserted inside the fluid compartment inside the fetal membrane to obtain cells?

A

amniocentesis

174
Q

Which method of karyotyping involves taking a piece of fetal membrane to be biopsied?

A

Chorionic villus sampling (CVS)

175
Q

Recently, fetal cells where found in the mother’s _______.

A

Circulation

176
Q

Recently, genetic tests have been conducted before the embryo does what?

A

Attaches to the uterine wall

177
Q

If one cell is removed from an eight cell embryo and the other seven cells are replaced back into the mother, can this embryo develop into a normal individual?

A

Yes, the one removed cell can then be used for genetic testing