Single-gene disorders Flashcards

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1
Q

In 1902, Archibald Garrod presented his studies on ___, a rare condition in w/c patients have urine that darkens on standing & arthritis.

A

alkaptonuria

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2
Q

Archibald Garrod found that three of 11 sets of parents of patients affected by alkaptonuria are blood relatives &, in collaboration w/ Bateson, proposed that this disease was a ____ w/ affected persons ____ for the underactive gene.

A

Mendelian recessive trait; homozygous

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3
Q

Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of ____ in the body.

A

homogentisic acid

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4
Q

Individuals affected by alkaptonura lack enough functional levels of the enzyme ____ required to breakdown homogentisic acid

A

homogentisate 1,2 dioxygenase

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5
Q

This was the first disease to be interpreted as a single-gene trait.

A

alkaptonuria

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6
Q

At the present time more than ____ human single - gene traits are known

A

7,000

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7
Q

This was the first demonstration in any organism that a mutation in a structural gene could produce an altered amino acid sequence.

A

sickle cell anemia

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8
Q

In 1948, Gibson demonstrated the first enzyme defect in an autosomal recessive condition called ____.

A

Methaemoglobinemia

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9
Q

What is the associated defective enzyme in methaemoglobin

A

NADH - dependent methaemoglobin reductase in methaemoglobinaemia

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10
Q

____ is a form of hemoglobin that cannot carry oxygen.

A

Methaemoglobin

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11
Q

The specific biochemical abnormalities in over 400 inborn errors of metabolism have now been determined, but the ____ is still unknown in many human single - gene disorders.

A

polypeptide product

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12
Q

The study of what type of gene disorders provided valuable insights into normal physiological mechanisms such as normal metabolic pathways .

A

single-gene disorders

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13
Q

The first human gene assignment was made by Wilson, who identified the trait for ____ in 1911 & assigned the gene to the ___.

A

colour blindness; X –chromosome

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14
Q

the first autosomal gene to be assigned was ___ to chromosome ____ in 1967.

A

thymidine kinase; 17

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15
Q

By 1987, a ____ of all human chromosomes had been developed and this was followed in 1993 by the first ___.

A

complete linkage map; physical map

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16
Q

The complete linkage map and physical map were essential steps towards the final goal of ____. The _____, initiated in 1990, aimed to map and sequence all human genes by the year 2005.

A

Human Genome Project

17
Q

The development of _____, in addition to competition between the publicly funded (International Human Gene Sequencing Consortium) and private company (Celera) schemes, led to the early completion of the human genome sequence in 2003.

A

high - throughput automated fluorescence - based DNA sequencing

18
Q

The sequence information of the human genome has been made publicly available via internet databases such as ____.

A

GenBank; NCBI

19
Q

Information available in genome databases include ____.

A

Associations with human diseases;
gene mapping data;
cross - species comparisons;
expression patterns;
predicted protein features