Human Disease Ch 10

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1

congenital disease

abnormality present at birth, even though it may not be detected un;l some ;me afterr birth

2

heretidary/genetic disease

results from chromosome abnormality or defective gene

3

causes of congenital malfunction

chromosomal abnormalities

genetic abnormalities

injury intrautero

environmental factors

4

genetic disorders

most diseases have some affiliation with genetic mutation

strictly genetic disease are cause by DNA mutation

5

two types of human cells

germinal

somatic

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two types of chromosomes

autosomes

sex (gametes)

7

types of genetic disorders

monogentic-one gene, small scale

chromosome disorders-large scale

multifactorial-multiple mutations and environment

mitochondrial disorders

8

mutations

changes in DNA sequence

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types of mutation

germline

somatic

10

cytogentics

study of chromosomes and their abnormalities

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chromosome abnormalities leading cause of:

genetic disease

mental retardation

loss of pregnancy

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types of chromosome changes

aneuploidy

translocation

deletions

13

aneuploidy

a loss or gain of one chromosome

result of non-disjunction during meiosis-ie monosomy, trisomy

more common than changes in chromosomal structure

14

non-disjunction

not coming apart during meiosis

leads to extra or loss of chromosomes during meiosis

15

aneuploidy monosomy

2n-1 condition

monosomy involving autosomes has severe phenotypic results

can be lethal in large embryogensis

can cause early abortion

16

aneuploidy trisomy

trisomy=2n+1

less severe than monosomy in autosomes

ie trisomy 21 or 18

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down syndrome

discover in 1866 by John Langon Down

is a result of trisomy 21

most common chromosomal defect

most common cause of mental retardation

18

clinical features of down syndrome

slanted eyes

congenital heart disease

abnormal creases in palms

intestinal defects

19

turner syndrome

1938-Henry Turner

cause isolated in 1960-loss of one X chromosome

female phenotype

short stature

can't develop secondary sex characteristics

20

klinefelter XXY

Henry Klinefelter

increased chance with older pregnancies

XXXY

XXXXY

21

klinefelter characteristics

male phenotype

tall, long limbs

hypogonadism

sterile

normal IQ

22

XYY

predisposition to violence

lower IQ

male

few physical problems

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genetically transmitted diseases

result from abnormalities of individual genes on a chromosome

however, chromosome appears normal

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causes of genetically transmitted diseases

spontaneous

environmental tetragons?

inherited

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functional consequences of genetic mutations

loss of function

gain of new function

dominant negative mutation

no change

lethal

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transmission of autosomes

most hereditary disease are transmited via autosomes

ie autosomal dominant or recessive inheritance

27

x-linked inheritance

few disorders are carried on sex chromosomes

female linked

28

autosomal recessive inheritance

fairly rare

need two copies of recessive to be shown

parents of carrier are usually heterozygous

think Punnet squares

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sex linked inheritance

X chromosome is much larger than y chromosome

x has more genes than y chromosome does

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intrauterine injury causes

tetragons

ie drugs (label A, B, C, D, and X by FDA) cigarette smoke

radiation

maternal infection-fetus is most vulnerable during weeks 3-8

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tetragons

x-ray

industrial chemicals, drugs, alcohol

maternal infection-virus, bacteria, parasite

32

TORCH

toxoplasm

other

rubella

cytomegalovirus

herpes simplex virus

33

fetal alcohol syndrome

mother consumes alcohol during pregnancy

1:1000 affected

CNS abnormalities and fetal growth restrictions

34

prenatal genetic diagnosis

fetal cells in maternal blood

amniocentisis-fetal cells collected

chorionic villi

ultrasound

35

multifactorial inheritance

combined effect of multiple genes interacting and environmental agents

36

congenital abnormalities

cleft lip

cleft palate

club foot

37

liability distribution

threshod model of disease

as multifactorial genes increase, risk of liability for disease increases