Indirect and Direct Mutant Gene Tracking

Question 1

This technique utilizes DNA sequence variations to follow the inheritance of mutant (and normal) genes within a family, for instance when no specific pathogenic mutation has been identified.

Answer 1

Gene tracking

Question 2

Frequent discontinuous genetic variations are called ____.

Answer 2

DNA polymorphism

Question 3

In indirect gene tracking, how frequent must a genetic variation at a specific site be to be considered a DNA polymorphism?

Answer 3

genetic variation must be occurring in the 1 or more percent of the population

Question 4

Gene tracking utilizes ____ to follow the inheritance of mutant (and normal) genes within a family, for instance when no specific pathogenic mutation has been identified.

Answer 4

DNA sequence variations

Question 5

In indirect gene tracking, ____ are frequently used, on account of their high degree of polymorphism, ease of analysis and large numbers in the genome.

Answer 5

Microsatellite markers

Question 6

Single Nucleotide Polymorphism (SNPs) alter a restriction enzyme’s target sequence and result in a detectable altered DNA product length following PCR of the surrounding region, specific restriction digestion and gel electrophoresis. This is the basis of what technique?

Answer 6

restriction fragment length polymorphism (RLFP)

Question 7

How many SNPs in average can be detected using a specific restriction enzyme?

Answer 7

1 in every 6

Question 8

Indirect mutant gene tracking, using ____ needs DNA samples from multiple family members and relies on an accurate ____ and the absence of ____ to permit the selection of the appropriate markers.

Answer 8

adjacent or internal polymorphic markers; clinical diagnosis; locus heterogeneity

Question 9

Indirect mutant gene tracking has an error rate due to _____ if markers are located at some distance from the mutant, and non-paternity can interfere with the analysis.

Answer 9

recombination

Question 10

This technique of mutant analysis needs fewer samples and the demonstration of a mutation often confirms the clinical diagnosis.

Answer 10

Direct mutant gene analysis

Question 11

Direct mutant gene analysis is not susceptible to errors due to recombination or non - paternity, and hence it has become the procedure of first choice for DNA analysis for ____ applications.

Answer 11

genetic counselling

Question 12

In direct mutant analysis, the underlying specific genetic alterations need to be defined for each family as a result of the _____, w/c is evident for most single - gene disorders.

Answer 12

diversity of causative genetic alterations