Single-gene disorders

Question 1

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

Answer 1

alkaptonuria

Question 2

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.

Answer 2

Mendelian recessive trait; homozygous

Question 3

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

Answer 3

homogentisic acid

Question 4

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

Answer 4

homogentisate 1,2 dioxygenase

Question 5

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

Answer 5

alkaptonuria

Question 6

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

Answer 6

7,000

Question 7

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

Answer 7

sickle cell anemia

Question 8

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

Answer 8

Methaemoglobinemia

Question 9

What is the associated defective enzyme in methaemoglobin

Answer 9

NADH - dependent methaemoglobin reductase in methaemoglobinaemia

Question 10

____ is a form of hemoglobin that cannot carry oxygen.

Answer 10

Methaemoglobin

Question 11

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.

Answer 11

polypeptide product

Question 12

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

Answer 12

single-gene disorders

Question 13

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

Answer 13

colour blindness; X –chromosome

Question 14

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

Answer 14

thymidine kinase; 17

Question 15

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

Answer 15

complete linkage map; physical map

Question 16

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.

Answer 16

Human Genome Project

Question 17

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.

Answer 17

high - throughput automated fluorescence - based DNA sequencing

Question 18

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

Answer 18

GenBank; NCBI

Question 19

Information available in genome databases include ____.

Answer 19

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