inherited defects 2

20問 • 2年前

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is a genetic disorder that affects bone growth and leads to dwarfism.

achondroplasia

The specific mutation in achondroplasia is typically a __________, where a glycine (G) is replaced with an arginine (R) at position 380 in the FGFR3 protein.

g380r substitution

The three bases are usually ______ (in the coding strand), which encodes glutamine.

CAG

are a specific type of tandem repeat sequence within genes that consist of multiple consecutive glutamine (Q) amino acids in a protein's primary structure.

polyglutamine

are a type of genetic mutation characterized by the instability and expansion or contraction of a repeated sequence of DNA within a gene.

dynamic mutations

is characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms.

huntington’s disease

-It is a neurodegenerative disorder that primarily affects coordination and balance due to progressive damage to the cerebellum and its associated pathways in the brain and spinal cord

spinocerebellar ataxias

- Between the promoter and gene for FMR1 is a series of about 30 CGG repeats. - These are usually present in the mRNA transcript but are not translated into protein.

fragile x

is a genetic disorder that causes a range of developmental and intellectual disabilities.

fragile x syndrome

refer to abnormalities in the structure or function of specialized organelles that generate energy in the form of ATP.

mitochondrial defects

In primordial germ cells (bottom), about 50% of the mitochondria have a mutation (red). As they develop into primary oocytes, only a few mitochondria are passed on. Therefore, some oocytes will have just a few affected mitochondria (top oocyte), some will have a majority of defective mitochondria (middle), and others will have an equal proportion (bottom). As the primary oocytes develop into mature eggs, the number of mitochondria increases, but the ratio of mutated to normal remains constant in each cell line.

mitochondrial dna bottleneck

are essential components of modern healthcare that focus on identifying, understanding, and managing genetic conditions or predispositions.

genetic screening and counseling

catalyzes the conversion of phenylalanine to tyrosine. If the enzyme is absent, phenylalanine accumulates and is toxic to the nervous system.

phenylalanine hydroxylase

is a rare genetic disorder that affects an individual's ability to metabolize the amino acid phenylalanine.

phenylketonuria

The absence of ________ will lead to the accumulation of phenylalanine in the blood and tissues. This can have severe consequences for brain development and function.

phenylaline hydroxylase

responsible for the development and growth of bones in arms and legs

fibroblast growth factor

years til the person possessing mental detardation last

shift replication in different direction (opposite)

backward slippage

patients with hungington’s disorder will only last for how many years?

process of encoding dna. the process by which the information in a strand of DNA is copied into a new molecule of messenger RNA (mRNA).

transcription

Anaphysio Q1

Laxamana, Ivan Christopher L. · 92問 · 2年前

Anaphysio Q1