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Flashcards in Biochemistry Deck (372)
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151

What body part can be absent in males with cystic fibrosis?

vas deferens

152

What is the inheritance pattern of Bruton Agammaglobulinemia?

X-linked

153

What type of infection do patients with Bruton Agammaglobulinemia develop? At what age?

encapsulated bacteria

infancy

154

What is the inheritance pattern of Wiskott-Aldrich?

X-linkedin recessive

155

What is the triad of Wiskott-Aldrich?

eczema, thrombocytopenia, immune deficiency

156

In what disease can T-cells not reorganize their actin cytoskeleton?

Wiskott-Aldrich

157

What enzyme is deficient in Fabry disease? What product accumulates?

α-galactosidase

globotriaosylceramide

158

The production of what product is inhibited in G6PD deficiency?

6-phosphogluconolactone

159

What enzyme is deficient in Hunter Syndrome?

iduronate sulfatase

160

What two products accumulate in Hunter Syndrome?

dermatin sulfate and heparin sulfate

161

What reaction is catalyzed by Ornithine Transbarbamoylase One?

carbamoyl phosphate and ornithine into citrulline

162

What is the mnenomic to remember X-linked recessive diseases?

Be Wise, Fools GOLD Heeds Silly HOpe

163

What is the most common death of a patient with DMD?

dilated cardiomyopathy

164

What happens to dystrophin during DMD?

deletion

165

What two proteins does dystrophin link?

actin and dystroglycan

166

What two serum protein markers are present in DMD?

CPK and aldolase

167

What type of mutation usually takes place in DMD?

frameshift

168

What type of mutation usually takes place in BMD?

point mutation

169

What trinucleotide repeat is present in myotonic dystrophy type 1?

CTG

170

Which protein is improperly expressed in myotonic dystrophy type 1?

myotonin protein kinase

171

Other than myotonia and muscle wasting, what are two more symptoms of myotonic muscular dystrophy type 1?

frontal balding and cataracts

172

What trinucleotide repeat is present in Fragile X?

CGG

173

What gene is effected during Fragile X? What post-transcriptional modification is effected?

FMR1

methylation

174

What three body parts are enlarged during Fragile X?

testes, jaws and ears

175

What is the trinucleotide expansion in Friedrich's Ataxia?

GAA

176

Where is trisomy in Edwards Syndrome?

18

177

What two GI diseases can a person with Downs develop?

duodenal atresia

Hirschprung Disease

178

What is the most common heart defect for a patient with Downs Syndrome?

ASD (ostium primum)

179

What two types of cancer is a patient with Downs syndrome predisposed to?

ALL and AML

180

What type of neurodegenerative disease can a person with Downs develop past the age of 35/40?

Alzheimers