GENETIC DISORDERS I

Question 1

_______ is defined as a permanent change in the DNA
_______ affect germ cells are transmitted to the progeny and can give rise to inherited diseases

Answer 1

mutations

Question 2

MUTATION

________ is a change in which a single base
it may alter the code in a triplet of bases and lead to the replacement of one amino acid by another in the gene product. Because of these mutations alter the meaning of the sequence of the encoded protein they are often termed as __________

Answer 2

point mutation
missense mutation

Question 3

MUTATION

besides from producing an amino acid subsitution, a point mutation may change an amino acid codon to a chain terminator or stop codon (__________)

Answer 3

nonsense mutation

Question 4

MUTATIONS
___________. deleterious effects may also result from mutations that do not involve the exons
___________. small deletions or insertions, involving the coding sequence can have two possible effects on the encoded protein

Answer 4

mutations within noncoding sequences

deletions and insertions

Question 5

MUTATIONS (deletion and insertion)

If the number of affected coding bases is not a multiple of three, this will result in an alteration of the reading frame of the DNA strand, producing what is referred to as a ____________

Answer 5

frameshift mutation

Question 6

MUTATIONS

__________. In addition to alterations in DNA sequence, coding genes also can undergo structural variations, such as copy number changes - _________ - or _______ that result in aberrant gain or loss of protein function

Answer 6

alterations in protein-coding genes other than mutations
amplifications or deletions
translocations

Question 7

MUTATIONS

_________. it is worth noting that in the past, the major focus of gene hunting was discovery of genes that encode proteins

Answer 7

alterations in noncoding RNAs

Question 8

MUTATIONS

_________ belong to a special category of genetic anomaly

these mutations are characterized by amplification of the sequence of three nucleotides

Answer 8

trinucleotide repeat mutations

Question 9

TRANSMISSION PATTERNS OF SINGLE GENE DISORDERS

Three patterns of inheritance:
A,A,X

Answer 9

Autosomal dominant
autosomal recessive
X-linked

Question 10

TRANSMISSION PATTERNS OF SINGLE GENE DISORDERS

______________ are manifested in the heterozygous state, so at least one parent of an index case is usually affected; both males and females are affected and both can transmit the condition

Answer 10

autosomal dominant

Question 11

TRANSMISSION PATTERNS OF SINGLE GENE DISORDERS

_________ make up the largest category of Mandelian Disorders. They occur when both alleles at a given gene locus are mutated.

Answer 11

autosomal recessive traits

Question 12

TRANSMISSION PATTERNS OF SINGLE GENE DISORDERS

All sex-linked disorders are ___, almost all are recessive

Answer 12

X-linked

Question 13

BIOCHEMICAL AND MOLECULAR BASIS OF SINGLE GENE MENDELIAN DISORDERS

__________ result from alterations involving single genes. The genetic defect may lead to the formation of an abnormal protein or a reduction in the output of a gene product

Answer 13

mendelian disorders

Question 14

DISORDERS ASSOCIATED WITH DEFECTS IN STRUCTURAL PROTEINS

_________ is a disorder of connective tissues, manifested principally by changes in the skeleton, eyes, and cardiovascilar system

________- syndrome results from an inherited defect in an extracellular glycoprotein called fibrillin-1

Answer 14

Marfan Syndrome
Marfan syndrome

Question 15

DISORDERS ASSOCIATED WITH DEFECTS IN STRUCTURAL PROTEINS

_____ comprises a clinically and genetically heterogenous group of disorders that result from some mutations in genes that encode collagen, enzymes that modify collagen and less commonly other proteins present in the extracellular matrix

Answer 15

Ehlers-Danlos Syndromes