What is the term for the observable traits of an individual as determined by their genotype?

Phenotype

Which of the following is a purine? A) Thymine B) Cytosine C) Guanine D) Uracil

C) Guanine

True or False: In humans, males have two X chromosomes.

False. Males have one X and one Y chromosome.

Riddle: I’m a variant of a gene that leads to different traits; you may find me in pairs. What am I?

Allele

The mechanism by which a gene may express itself more strongly in a heterozygous state is known as ______.

Dominant allele

Which autosomal dominant disorder is characterized by brittle bones and blue sclera? A) Marfan Syndrome B) Neurofibromatosis C) Osteogenesis Imperfecta D) Huntington’s Disease

C) Osteogenesis Imperfecta

True or False: All mutations lead to a visible change in phenotype.

False. Some mutations may be silent or not affect the phenotype.

In which genetic disorder does the gene on chromosome 15q21 affect the structure of connective tissues?

Marfan Syndrome

Fill in the blank: The rule stating that the amounts of purines equal the amounts of pyrimidines in DNA is known as ______.

Chargaff's rule

What type of inheritance is characterized by individuals exhibiting a disorder with one copy of a mutant gene?

Autosomal Dominant inheritance

Which of the following disorders is an example of X-linked recessive inheritance? A) Cystic fibrosis B) Fabry disease C) Huntington’s disease D) Marfan syndrome

B) Fabry disease

True or False: Individuals with uniparental disomy can express recessive disorders if only one parent is a carrier.

True.

Riddle: I can cause skeletal abnormalities and affect the heart but stem from a defect in a single gene. What am I?

Marfan Syndrome

What is the primary enzyme deficiency in Phenylketonuria (PKU)?

Phenylalanine hydroxylase

Fill in the blank: Alkaptonuria is caused by a deficiency of the enzyme ______.

Homogentisate oxidase

Which disease is characterized by the accumulation of GM2 gangliosides in the CNS?

Tay-Sachs Disease

True or False: Autosomal recessive disorders require only one parent to be a carrier for a child to be affected.

False. Both parents must carry the mutated gene.

Riddle: I’m a storage disease linked to glucose metabolism, leading to severe hypoglycemia. What am I?

Von Gierke’s Disease

What type of mutation leads to a protein that disrupts the function of the normal allele in a heterozygote?

Dominant negative mutation

Which genetic disorder involves trinucleotide repeat expansion causing progressive neurodegeneration?

Huntington's Disease

Fill in the blank: The characteristic cherry-red spot in the retina is associated with ______ disease.

Tay-Sachs

What is the most common type of lysosomal storage disease?

Gaucher Disease

True or False: Klinefelter syndrome is characterized by the presence of an extra Y chromosome.

False. Klinefelter syndrome is characterized by an extra X chromosome (47, XXY).

Riddle: I am a genetic condition where one X chromosome is inactivated, leading to a mosaic of traits. What am I?

Lyon's Hypothesis

Which karyotyping technique is most commonly used for routine cytogenetic analysis?

G banding

Fill in the blank: The first trimester combined test for Down syndrome assesses nuchal translucency and ______ levels.

HCG

What genetic phenomenon explains why affected males transmit X-linked disorders only to daughters?

X-linked inheritance

True or False: Gonadal mosaicism occurs when a mutation is present in somatic cells but not in gametes.

False. Gonadal mosaicism occurs when a mutation affects only the cells forming the gonads.

Riddle: I’m a type of cellular inheritance where the mother passes down traits via mitochondria. What am I?

Mitochondrial inheritance

What does the term 'pleiotropy' refer to in genetics?

The impact of a single gene on multiple traits.