Chap. 10: Molecular Diagnostics Flashcards
Compacted into chromosomes and bound to basic proteins.
Helical human DNA
Bound to basic proteins
histones
DNA + histone complex is called?
chromatin
The human nucleus contains ___ chromosomes.
46
Humans have two copies of each chromosome, a condition called?
Diploid
Two types of chromosomes are:
Somatic
Sex
Somatic: ___ pairs
Sex: ___, ___
22 pairs
X or Y, XX (F), XY (Male)
Coding parts of a gene.
Exons
Exons are ________ sequences.
expressed
Noncoding regions of a gene are called?
Introns
Introns are _______ sequences.
intervening
They can contain regulatory/transcriptional elements and have other functions.
Introns
Approximately ___% of all human genes have multiple allelic forms called ___________?
25
polymorphisms
Refers to a different version or form of a gene or noncoding region.
Allele
Highly polymorphic which codes for peptides that establish self-identity of the immune system.
Human Leukocyte Antigen (HLA)
Physical locations or positions of a gene or noncoding region on a chromosome.
Loci
Lack a nucleus and nuclear membrane.
Procaryotes
___% coding sequence.
___% noncoding sequence.
95
5
Extrachromosomal DNA containing nonessential genetic information.
Plasmids
Circular genome of approx. _______ base pairs, inherited _________.
16,600
maternally
mtRNA contains:
___ tRNA
___ rRNA
___ genes coding for oxidation-phosphorylation components.
22
2
12
Mutations in genes coding for oxidation-phosphorylation are responsible for ___________ and ___________.
neuropathies
myopathies
noncoding regions: ___ bp
hypervariable I regions: ___ bp
hypervariable II regions: ___ bp
610
342
268
Noncoding, hypervariable I, & hypervariable II are routinely sequenced for _________?
Forensics