LECTURE VI Flashcards
CHECK ON LEANRING
SNPs can lead to?
polymorphism deletion insertion translocation -chromosomal -balanced/unbalanced -homologous crossing over
T/F, polymorphisms can have no effect at all?
true
this type of SNP is the result of a terminal deletion of the short arm of chromosome 5
cri-du-chat syndrome
these medical conditions are the result of having cri-du-chat syndrome?
microencephaly
cardiac defects
hypotonia
severe mental retardation
this type of SNP is when you have the insertion of nucleotides?
chromosomal insertion
what are the medical conditions that can result from a chromosomal insertion?
huntington disease myotonic dystrophy fragile x syndrome friedreich's ataxia spinocerebellular ataxia Charcot-marie-tooth disease (duplication of chromosome 17)
what are the effects of SNP resultant change?
linked SNP outside of gene?
SNP within regulatory region?
SNP within coding region of gene?
it depends on where the SNP is found
no effect
modify (expression)
change AA sequence
what are the three types of approaches therapeutic development?
human genetics based approach
cardiac oncology approach
traditional bottom up approach
this type of approach studies the inheritable human disease, analysis, than drug development?
human genetics based approach
this type of approach takes into account CV complications with targeted cancer therapy, analysis, discovery leading to drug design
cardio-oncology approach
this type of approach takes into account the biochemical identification of novel signaling pathway, analysis, drug development and then results based evidence
traditional bottom up approach
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?
loss of function
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
gain of function
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
protein alteration
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
dominant effects of recessive allele
results from PAX3 mutation, DNA binding proteins important in regulating embryonic development?
Waardenburg syndrome
results from deletions in the PMP22 overexpression via duplication
Charcot marie tooth disease
results from CAG triplet addition of the androgen receptor. Mutant protein misfolds and interacts improperly
Kennedy disease
inherited as recessive allele. A mutation to the second, normal allele resulting in tumor formation
retinoblastoma
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?
epigenetics
what are some epigenetic mechanisms?
development environment drugs aging diet
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
Rubinstein-Taybi Syndrome RSTS
triplet disorders
Fragile X syndrome
Friedrich ataxis
Huntington Disease
these are examples of what type of inherited disorders?
non mendelian inheritance
this effect of DNA methylation can lead to perturbations in gene expression or genomic instability?
DNA hypomethylation
this effect of DNA methylation may promote widespread changes in gene expression patterns through different mechanisms?
DNA hypermethylation
this condition results in microencephaly, severe developmental delay, mental retardation, speech impairment, ataxia and hadn’t flapping?
loss of maternal contribution
Angelman syndrome
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
Prader-Willi syndrome
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?
mitochondrial inheritance
the mutation in this gene is responsible for Waardenburg syndrome?
PAX3
the mutation in this gene is responsible for Carcot Marie tooth disease?
PMP22
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
autosomal dominant
mendelian
this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian
albinism cystic fibrosis phenylketonuria galactosemia mucopolysaccharidoses
autosomal recessive
mendelian
this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian
hypophosphatemic rickets
orofaciodigital syndrome
x-linked dominant
mendelian
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
x-linked recessive
mendelian
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
triplet repeats
nonmendelian
this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian
prader willi syndrome
angelman syndrome
genomic imprinting
nonmendelian
this diseases are examples of what type of inherited disorder? also state if mendelian or nonmendelian
LHON
MERRF
MELAS
mitochondrial
nonmendelian
the mutation in this gene is responsible for retinoblastoma?
RB1
the mutation in this gene is responsible for Rubinstein-Taybi Syndrome RSTS
CREBBP
epigenetic marks are imprinted in the germline and rich in what nucleotide base pairs?
C-G
