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Cleft Palate > Chapter Four > Flashcards

Chapter Four Flashcards

1
Q

Inheritance of Craniofacial Anomalies

Craniofacial anomalies tend to _____in families.

Risk for recurrence is _____.

It depends on interactions of ______and ______factors.

A

recur

variable

environmental and genetic

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2
Q

Cell anatomy

A

Image

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3
Q

Deoxyribonucleic Acid (DNA)

Located in the ______of the cell

Consists of nucleotides which contain:
_______ (deoxyribose) chemically bonded to:
Nitrogenous base

_____—adenine (A) and guanine (G)

______—thymine (T) and cytosine (C)

________—links the nucleotides together at the 5th and 3rd carbons of the sugar

A

nucleus

A5-carbon sugar

Purines

Pyrimidines

Phosphate group

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4
Q

Deoxyribonucleic Acid (DNA)

DNA forms long _____(macromolecules) composed of repeating structural units.

Two strands coil together to form a ______.

______is always paired with a specific pyrimidine in the opposite strand (e.g., A-T and C-G pairs).

A

polymers

double helix

Purine

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5
Q

Replication

Replication is the process of making ….

One strand of the double helix allows DNA to serve as a template for its own ______.

A

two identical DNA molecules from one.

replication

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6
Q

Process of replication:

A

Double helix is unwound.

Complementary strands are separated.

Nucleotides are added to each single strand sequentially, forming new complementary strands.

The result is two identical double helix molecules of DNA.

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7
Q

Genes and Chromosomes

Gene:

Chromosome:

A

Gene—submicroscopic functional unit of heredity, consisting of a discrete segment of a DNA strand within a chromosome

Chromosome—a single, linear double strand of DNA with associated proteins

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8
Q

Genes

______are found in each chromosome.

Genes consist of the following:

A _____region—starting point for the gene’s activity and serves as an on/off switch

A _____region—contains information needed to make a functional protein

_______elements—determine how much of the protein will be made

A

Thousands

promoter

coding

Regulatory

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9
Q

Changes in the coding region of a gene may lead to _____(deletions or insertions) that ____gene function.

Mutations can result in various ______or _______.

A

mutations; disrupt

diseases or malformations

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10
Q

_______—variability in genes among individuals

Polymorphism is _____in virtually all genes.

It contributes to the _____of each individual.

New variants that improve _____may become more common over time.

New variants that lead to disease will remain rare or be ______.

A

Polymorphism

common

uniqueness

function

eliminated

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11
Q

Ribonucleic Acid (RNA)

Similar to DNA, but
Are located in the _____, not the nucleus

Is a ____strand rather than a double strand

Has _____as the sugar rather than dextrose

Has the _____(U) in place of thymine (T)

A

cytoplasm

single

ribose

pyrimidine uracil

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12
Q

Transcription—

A

a process in which a complementary strand of DNA is created with a single-strand template

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13
Q

Ribonucleic Acid (RNA)

Amino acids:
Polypeptide:
Protein:

A

the building blocks of proteins

a sequence of amino acids

consists of polypeptides

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14
Q

____determines which amino acids will be incorporated into the protein.

_______—determines the amino acid sequence for a polypeptide

______—segments of the coding region that are spliced together to form a continuous RNA coding sequence

_____—segments between exons that are spliced out follow

A

RNA

Coding region

Exons

Introns

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15
Q

Messenger RNA or mRNA

RNA that has had the introns _____

Is transported from the nucleus to the cytoplasm to function as a template for ______

_______—organelles that attach to mRNA and translate nucleotides into the specified polypeptide (amino acid sequence), forming a template for protein synthesis

A

removed

protein synthesis

Ribosomes

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16
Q

Chromosomes

Linear double strands of DNA with associated ______

Function to _____and compact the DNA in a cell

A

proteins

organize

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17
Q

The main function of DNA is***

A

…

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18
Q

The main function of a gene;

A

passing on traits to offspring

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19
Q

_____—a complete set of instructions for a particular organism or species

_____—a visual profile of an individual’s chromosomes

A

Genome

Karotype

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20
Q

_______—narrowed region of each chromosome that is important for cell division

Types of chromosomes:

______—contain a centrally located centromere

______—centromere is off center, leading to a short “p” arm and a long “q” arm

_______—centromere is close to one end of the chromosome

A

Centromere

Metacentric chromosomes

Submetacentric chromosomes

Acrocentric chromosomes

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21
Q

Each chromosome contains:
A ______—narrowed region that is important for cell division

A chromosome may contain:
A ____—short arm on each side
A ____—long arm on each side

A

centromere

“p” arm

“q” arm

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22
Q

Each pair of chromosomes is numbered from 1 to __.

Chromosomes from 1 to 22, called _____, are numbered according to length (longest is 1 and shortest is 22).

The ____pair, called the sex chromosomes (X and Y), determine gender.

Females have two __chromosomes (one from each parent), written as 46, XX.

Males have an __(from the mother) and a __(from the father), written as 46, XY.

A

23

autosomes

23rd

X

X and Y

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23
Q

Chromosomes can be ____to reveal light and dark colored bands.

____—a schematic drawing of the banding pattern of a chromosome

A

stained

Ideogram

24
Q

Specific genes are labeled by the chromosome number, arm (“p” or “q”) and band number to indicate its _____relative to the centromere and the other bands on that arm.

Chromosomes are used to describe the rough location of ____in gene mapping studies.

Example: lp36 means the gene is on the short arm of chromosome 1 in the band labeled 36

A

location

genes

25
Q

Cell Cycle

Cells alternate between states of active ____and _____.

______—the process of preparing for and undergoing cell division

Frequency depends on the ______and the ______of the organism at the time.

Steps are similar for all types of somatic cells (all cells except, those for _____).

A

division and nondivision

Cell cycle

type of cell and rate of growth

reproduction

26
Q

Two major processes:

_____—process of separating duplicated chromosomes and reconstitution of two cell nuclei

Takes place in the ______cells

An identical set of chromosomes is distributed to each _____cell

Results in daughter cells that have the same number of chromosomes (46) as the _______

_______—the separation of the cell cytoplasm to form two distinct cells with separate cell membranes

A

Mitosis

somatic

daughter

parent cell

Cytokinesis

27
Q

Meiosis:

Meiosis occurs only in the production of _____, which are sperm from the testes and ova (eggs) from the ovaries.

Process results in ___chromosomes rather than 46.

When sperm and ova combine to form a ____, the organisim will have 46 chromosomes.

Cells division results in cells that each have a single ____of each chromosome.

______—the time between cell division

A

gametes

23

zygote

copy

Interphase

28
Q

Chromosomal Abnormalities

Nondisjunction—

Monosomy:
.

Monosomy X results in ______

A

failure of chromosome to separate during cell division

Loss of one copy of a chromosome results in only a single copy of a chromosome

Turner syndrome.

29
Q

Trisomy:
Trisomy is caused by gaining one extra copy of a chromosome, for a total of _____chromosomes

Trisomy can occur for 13, 18, 21 (Down syndrome), or X.

A

three

30
Q

______—when the cells have different genetic contents in a single individual

______—when part of a chromosome becomes separated and lost

A

Mosaicism

Deletions

31
Q

______—when a part of a chromosome is duplicated

_______—when there is a transfer of genetic material between two or more chromosomes

______—when a portion of a chromosome is turned 180° from its usual orientation

Note: Small mutations involving single genes are more common than chromosomal abnormalities.

A

Duplications

Translocations

Inversions

32
Q

Normal and deleted human chromosome 4 with ideograms

Associated with ________

A

Wolf-Hirschhorn syndrome

33
Q

Chromosomes are _____during certain stages of the cell cycle, to be easily viewed under a microscope.

For abnormalities that are too small to be seen with routine analysis, a special technique called fluorescence in situ hybridization (____) is used in a cytogenetics lab.

FISH is needed to identify deletions on chromosome 22qll.2, associated with _______

A

condensed

FISH

velocardiofacial syndrome

34
Q

______ (cell genetics)—a branch of genetics dealing with the structure and function of the cell, particularly the chromosomes

_____—caused by deletions that contain several genes

A

Cytogenetics

Contiguous gene syndromes

35
Q

______—patterns of inheritance first described by Mendel in his studies on peas in 1866

Patterns include:
1.
2.
3.

Allele—

A

Mendelian inheritance

  1. Autosomal recessive
  2. Autosomal dominant
  3. X-linked patterns

a copy of a gene

36
Q

Pattern of inheritance of a trait depends on whether the individual is:

_______—has the same allele of the gene for a trait

_____—has two different alleles of the gene for a trait

A

Homozygous

Heterozygous

37
Q

Pedigree—

A

a pictorial representation of family members and their line of descent

38
Q

Autosomal Recessive Inheritance

_____—heterozygous individuals who have one normal and one abnormal copy of a gene but are without detectable abnormalities as a result

_____—a group of features or typical characteristics of a genetic condition

A

Carriers

Phenotype

39
Q

Autosomal Recessive Inheritance

_______—a trait that manifests only when mutations are present in both copies of a gene

Only ______individuals will have features typical of the phenotype of an autosomal recessive condition.

A

Autosomal recessive

homozygous

40
Q

When two heterozygous carriers of an autosomal recessive condition mate:

A

There is a 25% risk that the child will receive a copy of the abnormal gene from each parent and become affected.

There is a 50% risk that the child will receive a single copy of the abnormal gene from one parent and become a carrier.

41
Q

_______—mating between related individuals
Leads to increased risk that the both members of the couple carry the same disease-causing mutations of the same genes

________—a condition where a specific phenotype can be caused by mutations of different genes

A

Consanguinity

Heterogeneity

42
Q

Autosomal Dominant Inheritance

_________—a trait that manifests when mutations are present in only one copy of a gene

Both ______ and _______individuals will have features typical of the phenotype of an autosomal dominant condition.

A

Autosomal dominant

homozygous and heterozygous

43
Q

When two individuals with a dominant condition mate:
There is a ____% chance that they will pass the condition to their offspring, who will be homozygotes with two copies of the defective gene.

A

100

44
Q

When one individual with a dominant condition and an unaffected partner mate:
There is a ____% risk with each pregnancy of passing the condition to their offspring (who will be heterozygotes).

A

50

45
Q

When two individuals with the same autosomal dominant disorder mate:

A

There may be unaffected children if both parents are heterozygotes, with one normal and one abnormal allele.

46
Q

_________—the lack of a recognizable phenotype in an individual who carries a gene for an autosomal dominant trait or condition

_________—where a single mutant gene can affect multiple, unrelated systems (e.g., heart, skin, bones, etc.)

A

Incomplete penetrance

Pleiotropy

47
Q

X-linked inheritance—caused by genes on the X chromosome

Affects mostly _____because they inherit only one allele of the X chromosome, whereas females inherit two copies

A

males

48
Q

X-linked recessive conditions:

These affect ____almost exclusively

Females have only a ____effect or no effect.

Carrier females transmit the defective genes to ___% of their sons, who will be affected.

Carrier females transmit the defective genes to 50% of their daughters, who will be carriers.

Affected males pass the gene to ____% of their daughters

There is no father-to-son transmission because fathers do not give an __chromosome to their sons.

A

males

mild

50

100

X

49
Q

X-linked dominant conditions: rare, with only a few known disorders

Affected males:
Transmit the disorder to all _____

Do not transmit to ____, because they receive the Y chromosome from the father

Many X-linked dominant disorders that are ____to males

Affected females:
Are more often affected than males

Can transmit the disorder to offspring of both _____

A

daughters

sons

lethal

sexes

50
Q

Non-Mendelian Inheritance

Inheritance that does not follow the basic rules of Mendelian inheritance includes:
1.
2.
3.

A
  1. Multifactorial inheritance
  2. Anticipation
  3. Imprinting
51
Q

_______—when disorders result from an interaction of multiple genes with environmental influences

_______—environmental factors known to increase risks for birth defects

A

Multifactorial inheritance

Teratogens

52
Q

Multifactorial Inheritance

Two categories of multifactoral inheritance abnormalities:

1.
2.

A
  1. Continuous variation abnormalities

2. Threshold abnormalities

53
Q

Continuous variation abnormalities

A

These include traits on a continuum, such as height, weight, intelligence, and blood pressure.

Border between normal and abnormal is subjective and a matter of arbitrary definition.

54
Q

Threshold abnormalities

A

These include cleft lip/palate, pyloric stenosis, and neural tube defects.

Trait is either present or absent.

As the number of risk factors increases, the additive risk may cross a threshold, resulting in expression of the trait.

55
Q

Multifactorial Inheritance
Recurrence risk

Increased with greater _____

Increased in close relatives because:
They share _______.

They have similar _____risk factors.

A

severity

genetic backgrounds

environmental

56
Q

___________—a tendency in certain inherited disorders to have more severe manifestations or an earlier age of onset with succeeding generations

A

Anticipation

57
Q

______—the tendency for some genes to function differently, depending on whether they were inherited maternally or paternally

If the gene is maternally imprinted, the allele inherited from the mother is not _____.

If the gene is paternally imprinted, the allele inherited from the father is not _____.

A

Imprinting

expressed

expressed

Cleft Palate (19 decks)

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