LECTURE VI

Question 1

SNPs can lead to?

Answer 1

polymorphism
deletion 
insertion
translocation 
-chromosomal
-balanced/unbalanced
-homologous crossing over

Question 2

T/F, polymorphisms can have no effect at all?

Answer 2

true

Question 3

this type of SNP is the result of a terminal deletion of the short arm of chromosome 5

Answer 3

cri-du-chat syndrome

Question 4

these medical conditions are the result of having cri-du-chat syndrome?

Answer 4

microencephaly
cardiac defects
hypotonia
severe mental retardation

Question 5

this type of SNP is when you have the insertion of nucleotides?

Answer 5

chromosomal insertion

Question 6

what are the medical conditions that can result from a chromosomal insertion?

Answer 6

huntington disease
myotonic dystrophy
fragile x syndrome
friedreich's ataxia
spinocerebellular ataxia
Charcot-marie-tooth disease (duplication of chromosome 17)

Question 7

what are the effects of SNP resultant change?

linked SNP outside of gene?

SNP within regulatory region?

SNP within coding region of gene?

Answer 7

it depends on where the SNP is found

no effect

modify (expression)

change AA sequence

Question 8

what are the three types of approaches therapeutic development?

Answer 8

human genetics based approach

cardiac oncology approach

traditional bottom up approach

Question 9

this type of approach studies the inheritable human disease, analysis, than drug development?

Answer 9

human genetics based approach

Question 10

this type of approach takes into account CV complications with targeted cancer therapy, analysis, discovery leading to drug design

Answer 10

cardio-oncology approach

Question 11

this type of approach takes into account the biochemical identification of novel signaling pathway, analysis, drug development and then results based evidence

Answer 11

traditional bottom up approach

Question 12

what type of selected mechanism of allelic action and disease is this?

Waardenburg syndrome results from PAX3 mutation, DNA binding proteins important in regulating embryonic development?

Answer 12

loss of function

Question 13

what type of selected mechanism of allelic action and disease is this?

Charcot marie tooth disease results from deletions in the PMP22 overexpression via duplication

Answer 13

gain of function

Question 14

what type of selected mechanism of allelic action and disease is this?

Kennedy disease results from CAG triplet addition of the androgen receptor. Mutant protein misfolds and interacts improperly

Answer 14

protein alteration

Question 15

what type of selected mechanism of allelic action and disease is this?

retinoblastoma is inherited as recessive allele. A mutation to the second, normal allele resulting in tumor formation

Answer 15

dominant effects of recessive allele

Question 16

results from PAX3 mutation, DNA binding proteins important in regulating embryonic development?

Answer 16

Waardenburg syndrome

Question 17

results from deletions in the PMP22 overexpression via duplication

Answer 17

Charcot marie tooth disease

Question 18

results from CAG triplet addition of the androgen receptor. Mutant protein misfolds and interacts improperly

Answer 18

Kennedy disease

Question 19

inherited as recessive allele. A mutation to the second, normal allele resulting in tumor formation

Answer 19

retinoblastoma

Question 20

this the study of heritable changes that do not involve changers to the underlying DNA sequence thus a change in phenotype without change in genotype?

Answer 20

epigenetics

Question 21

what are some epigenetic mechanisms?

Answer 21

development
environment
drugs
aging
diet

Question 22

this syndrome is inherited in an autosomal dominant way

affected by the CREB binding protein

eye, heart, mental retardation, teeth, kidney defects along with thumb and first toe broad tumors

Answer 22

Rubinstein-Taybi Syndrome RSTS

Question 23

triplet disorders

Fragile X syndrome
Friedrich ataxis
Huntington Disease

these are examples of what type of inherited disorders?

Answer 23

non mendelian inheritance

Question 24

this effect of DNA methylation can lead to perturbations in gene expression or genomic instability?

Answer 24

DNA hypomethylation

Question 25

this effect of DNA methylation may promote widespread changes in gene expression patterns through different mechanisms?

Answer 25

DNA hypermethylation

Question 26

this condition results in microencephaly, severe developmental delay, mental retardation, speech impairment, ataxia and hadn't flapping? loss of maternal contribution

Answer 26

Angelman syndrome

Question 27

this condition results in a hypotonic fetus, reduced fetal movement, hyperphagia, morbid obesity, short stature, learning disabilities, hypogonadism. incomplete pubertal development? loss of paternal contribution

Answer 27

Prader-Willi syndrome

Question 28

this is an example of non-mendelian inheritance? both males and females can be affected but only females can transmit the disease to their offspring?

Answer 28

mitochondrial inheritance

Question 29

the mutation in this gene is responsible for Waardenburg syndrome?

Answer 29

PAX3

Question 30

the mutation in this gene is responsible for Carcot Marie tooth disease?

Answer 30

PMP22

Question 31

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian ``` achondroplasia marfan syndrome neurofibromatosis type I brachydactyly Noonan syndrome ```

Answer 31

autosomal dominant | mendelian

Question 32

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian ``` albinism cystic fibrosis phenylketonuria galactosemia mucopolysaccharidoses ```

Answer 32

autosomal recessive | mendelian

Question 33

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian hypophosphatemic rickets orofaciodigital syndrome

Answer 33

x-linked dominant | mendelian

Question 34

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian duchenne hemophilia A and B G6P dehydrogenase deficiency Lesch-Nyhan syndrome

Answer 34

x-linked recessive | mendelian

Question 35

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian ``` fragile x syndrome myotonic dystrophy spinocerebellar ataxia synpolydactyly Friedreich ataxia ```

Answer 35

triplet repeats | nonmendelian

Question 36

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian prader willi syndrome angelman syndrome

Answer 36

genomic imprinting | nonmendelian

Question 37

this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian LHON MERRF MELAS

Answer 37

mitochondrial | nonmendelian

Question 38

the mutation in this gene is responsible for retinoblastoma?

Answer 38

RB1

Question 39

the mutation in this gene is responsible for Rubinstein-Taybi Syndrome RSTS

Answer 39

CREBBP

Question 40

epigenetic marks are imprinted in the germline and rich in what nucleotide base pairs?

Answer 40

C-G