Patho wk 1 Flashcards - flashcard for fundamentals flashcard for fundamentals nursing thepry 3 . with PDF

Preview

Summary

flashcard for fundamentals flashcard for fundamentals nursing thepry 3 . with note...

Description

12/23/21, 3:04 AM

patho wk 1 Flashcards | Quizlet

patho wk 1 Terms in this set (104) Genotype

An organism's genetic makeup, or allele combinations.

mutation

inherited alteration of genetic material

Triploidy

when an organism has three copies of every chromosome instead of two

Ribosomes

fragile sites

Inversion

promotor site

euploidy cell

aneuploidy cells

Klinefelter syndrome

Trisomy

Translation

site of protein synthesis

Areas on chromosomes that develop distinctive breaks or gaps when cells are cultured

occurs when two breaks take place on a chromosome

part of a DNA molecule that indicates where the sequence of base pairs that makes up a gene begins

a condition when a cell or an organism has one or more than one complete set of chromosomes

cells that do not contain a multiple of 23 chromosomes

A chromosomal disorder in which males have an extra X chromosome, making them XXY instead of XY.

3 copies of a chromosome

RNA directs the synthesis of a polypeptide

Nondisjunction

Error in meiosis in which homologous chromosomes fail to separate.

Haploidy Cells

contains a total of 23 chromosomes

Turner's syndrome

Down Syndrome

somatic cells

Duplication

monosome of x chromosome

trisomy of chromosome 21

contains 23 pairs of chromosome in the nucleus

too much genetic material

patho wk 1 https://quizlet.com/360484774/patho-wk-1-flash-cards/

1/7

12/23/21, 3:04 AM

patho wk 1 Flashcards | Quizlet monosome

polyploidy cells

Deletion

Transcription

tetraploid

Translocation

Autosomes

list the physical findings of Trisomy 21 (Down Syndrome)

contains only 1 copy of one chromosome

contains more than the diploid number of chromosomes

broken chromosomes and lost DNA cause

synthesis of an RNA molecule from a DNA template

4 sets of chromosomes

interchange of genetic material between non homologous chromosomes

22 homologous chromosomal pairs

low set ears, poor muscle tone, IQ 20-70, all male sterile, most female sterile, low nasal bridge, protruding tongue, short stature, epicanthal folds * 20% die before 10 years of age, those who live longer can live to be about 60

list the physical findings of Turners (45,X)

IQ normal, math reasoning impaired, edema in feet of newborns, female only, webbing of the neck, widespread nipples and narrowing of the aorta

high pitched voice, small testicles, spars body hair, breast enlargement in men, delayed puberty, flaccid muscles, IQ moderately impaired list the physical findings of Kleinfelter's (47,XXY)

* 1:1000 male *Male appearance and 50% develop breast

menstrual irregulating, IQ affected, 3 X chromosomes, no overt physical list the physical findings of Trisomy X

abnormalities, usually sterile * 1:1000 newborn female

breakage

some breaks remain or heal in a way that alters the chromosomes structure

Deletions

omitted portions of DNA sequences

duplications

inversions

Translocation

Fragile X Syndrome

of gene or gene sequence. less serious than deletions, but can cause mental retardation

a break occurs and then reinserted but in the opposite order

the interchange of genetic material between nonhomologous chromosomes

fragile site on long arm of X chromosome L/T intellectual disability

each chromosome is represented twice, with one member of the chromosome pair allele

contribute by the father and one by the mother *genes at a particular locus

patho wk 1 https://quizlet.com/360484774/patho-wk-1-flash-cards/

2/7

12/23/21, 3:04 AM

patho wk 1 Flashcards | Quizlet homozygous alleles

identical alleles at a certain location

heterozygous alleles

different alleles at a certain location

Genotype

Phenotype

Foods high in phenylalanine

in PKU if the diet is changed, the child will have a

An organism's genetic makeup, or allele combinations.

the set of observable characteristics of an individual resulting from the interaction of its genotype with the environment.

Meat, milk, dairy products, eggs, high protein foods

phenotype

normal __________

Dominant

An allele that is always expressed

Recessive

trait of an organism that can be masked by the dominant form of a trait

Codominance

the heterozygote is distinguishable from the homozygoes

Carrier

phenotype is normal, but has a disease gene or genotype

mode of inheritance

the pattern in which a genetic disease is inherited through generations

single gene diseases can be classified into what

Autosomal dominant disorder, autosomal recessive disorder, x-linked dominant,

four major modes of inheritance?

and x-linked recessive

abnormal allele is dominant, normal allele is recessive autosomal dominant disorder

rare 1:1000 equal transmission in transmit trait to offspring in both genders, no skipped generations

abnormal allele is recessive, normal is dominant autosomal recessive disorder

1 heterozygous (Dd) carriers mate= 25% chance for each offspring (dd) to have the disease

one mutated copy of the gene in each cell is sufficient for a person to be affected autosomal dominant

by an autosomal dominant disorder. in most cases, an affected person inherits the condition from an affected parent

in autosomal recessive inheritance, both copies of the gene in each cell have mutations. the parents of an individual with an autosomal recessive condition each autosomal recessive

carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. autosomal recessive disorders are typically not seen in every generation of an affected family

patho wk 1 https://quizlet.com/360484774/patho-wk-1-flash-cards/

3/7

12/23/21, 3:04 AM

patho wk 1 Flashcards | Quizlet x-linked dominant disorders are caused by mutations in genes on the x chromosome, one of the two sex chromosomes in each cell. in females (who have two x chromosomes), a mutation in one of the two copies of the gene in each cell x-linked dominant

is sufficient to cause the disorder. in males (who have only one x chromosomes), a mutation in the only copy of the gene in each cell causes the disorder. in most cases, males experience more severe symptoms of the disorder than female

x-linked recessive disorders are also caused by mutations in genes on the x chromosome. in males (who have only one x chromosome) one altered copy of the gene in each cell is sufficient to cause the condition. in females (who have two x-linked recessive

x chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. because it is unlikely that females will have two affected copies of this gene, males are affected by x-linked recessive disorder much more frequently than females. a characteristic of x-linked inheritance is that fathers cannot pass x-linked traits to their sons(no male to male transmission)

a condition is considered y-linked if the mutated gene that causes the disorder is y-linked

located on the y chromosome. because only males have a y chromosome, in ylinked inheritance, a mutation can only be passed from father to son

in codominant inheritance, two different versions (alleles) of a gene are expressed, codominant

and each version makes a slightly different protein. both alleles influence the genetic trait or determine the characteristics of the genetic condition.

mitochondrial inheritance, also known as maternal inheritance, applies to genes in mitochondrial DNA. because only eggs cells contribute mitochondria to the mitochondrial

developing embryo, only females can pass on mitochondrial mutations to their children. conditions resulting from mutations in mitochondrial DNA can appear in every generation of a family and can affect both males and females, but fathers do not pass these disorders to their daughters or sons

recurrence risk

probability an individual will develop a genetic disease

if a child is born with an autosomal dominant disease and there is no family history, New mutation

the child is probably the product of a new mutation. because these diseases often reduce the potential for reproduction, many autosomal dominant diseases result from new mutations

Germline mosaicism

during embryonic development of one of the parents, a mutation occurred that affected all or part of the germline

symptoms are not usually seen until 40 years of age or later. Delayed age of onset

ex. Huntington's disease; those who develop the disease often have borne children before they are aware they have the disease

penetrance

percentage of individuals with a specific genotype who also exhibit the expected phenotype

patho wk 1 https://quizlet.com/360484774/patho-wk-1-flash-cards/

4/7

12/23/21, 3:04 AM

patho wk 1 Flashcards | Quizlet possesses disease causing genotype, but not exhibit the disease phenotype ex. retinoblastoma- malignant eye tumor exhibits incomplete penetrance. 10% have affected parents and children, but not themselves (obligate carriers penetrance is

incomplete penetrance

said to be 90%

extent of variations in phenotype associated with a particular genotype. expressivity

ex. neurofibromatosis; spectrum from café-au-lait spots to scoliosis, seizures, lesions, neuromas, and learning disorders

1. males and females are affected in equal portions the most important criteria for discerning autosomal recessive inheritance include

2. consanguinity is sometimes present 3. the disease may be seen in siblings of affected individuals, but usually not in their parents 4. 1/4th of the offspring of carrier parents will be affected

if two parents have a recessive disease, they each

all their children also must be affected

must be homozygous for the disease, therefore

mating of two related individuals, the offspring is inbred. consanguineous mating's consanguinity

produce a significant increase in recessive disorders and are seen most often in pedigrees for rare recessive disorders.

because a single copy of an x-linked recessive

more males are affected by x-linked recessive disease than are females

gene will cause disease in a male, whereas two copies are required for disease expression in females thus,

X inactivation

one x chromosome is permanently inactivated in the somatic cells of females

most gene products coded by the x chromosome are present in equal amounts in dose compensation

males and females, even though males have only one x chromosome and females have two x chromosomes

the inactivated x chromosomes are observable in many interphase cells as highly barr bodies

condensed intranuclear chromatin bodies. females have one barr body in each somatic cell. males have no barr bodies.

one of the two x chromosomes is inactivated. in some cells, the inactivated x in each somatic cell

chromosome is from the fathers contribution, in other cells , the inactivated x chromosome is from the mothers contribution

begins during the sixth week of gestation. one copy of the y chromosome is the process of sexual differentiation

sufficient to initiate the process of gonadal differentiation that produces a male fetus. the number of x chromosomes does not alter the process

in x-linked pedigrees

females are seldom affected. to be affected either the father is homozygous for trait or the father affected and the mother a carrier

patho wk 1 https://quizlet.com/360484774/patho-wk-1-flash-cards/

5/7

12/23/21, 3:04 AM

patho wk 1 Flashcards | Quizlet 1. trait is seen more often in males than in females 2. because a father can only give a son a y chromosome, the trait is never transmitted from father to son. 3. the gene can be transmitted through a series of carrier females, causing the

x-linked recessive inheritance principles

appearance for one or more skipped generations 4. the gene is passed from an affected father to all of his daughters, who then become carriers, who then transmit it to approximate half of their sons who are affected

usually, x-linked recessive genes are inherited from the mating of

a carrier female and a normal male. on average, the carrier mother will transmit the disease-causing allele to half her sons (who are affected) and half her daughters (who are carriers)

if the father is normal and the mother is a carrier

all the sons are normal and all the daughters will be heterozygous carriers. none

then

of the children will be affected

polygenic traits

multifactorial inheritance

Type A can give to

Type A can receive from

Type B can give to

Type B can receive from

not all traits are produced by single genes, some traits result from several genes acting together

environmental factors influence the expression of a trait

A, AB

A,O

B, AB

B and O

Type AB can give to

AB

Type AB can receive from

all

Type o can give to

Type O can receive from

A+ gives to

A+ receive from

anyone

O

A+, AB+

A+, A-, O+, O-

A- gives to

A+, AB+, A-, AB-

B+ gives to

B+, AB+

A- receives from

A-,O-

B+ receives from

B-,B+,O-,O+

patho wk 1 https://quizlet.com/360484774/patho-wk-1-flash-cards/

6/7

12/23/21, 3:04 AM

patho wk 1 Flashcards | Quizlet B- gives to

B- receives from

AB+ gives to

AB+ receive from

AB- gives to

B-,AB-,B+,AB+

B-, O-

AB+

All

AB+,AB-

AB- receives from

all negative

O+ gives to

all positive

O+ receives from

O+,O-

O- gives to

All

O- can receive from

O-

https://quizlet.com/360484774/patho-wk-1-flash-cards/

7/7...