Term
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Definition
| Deletion or duplication of entire chromosomes a condition known as |
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Definition
Involve part of a chromosome
Duplications, inversions, deletions
1 in 1700 cell divisions
Usually incompatible with survival
Hence, rarely transmitted from one generation to next |
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Term
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Definition
Alteration of base sequence in one gene
Base pair insertion, deletion and substitution
Often the result of exposure to mutagens, but may be spontaneous |
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Term
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Definition
| what is the most common type of human genetic mutation? |
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Term
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Definition
Point mutations which lead to a change of amino acid in a sequence
Common in hemoglobinopathies |
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Definition
Point mutation introduces new stop codon terminating mRNA synthesis
Leads to truncated protein which is usually unstable |
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Definition
Splicing mutations
5’ donor and 3’ acceptor sites
Abolition of site
Introduction of new competitive site |
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Term
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Definition
| a line sequence in hemophilia A is an example of a |
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Term
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Definition
Very large deletions ( 2 – 4 Mb) visible cytogenetically
Multiple genes affected
Chromosome/chromosome translocations detected by |
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Term
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Definition
Can cause insertions and deletions
These occur when very similar sequences are adjacent to one another
Two or more tandem gene copies misalign during crossing are? |
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Term
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Definition
in this disease an error In a coding exon occurs
Abnormal protein |
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Term
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Definition
this disease occurs in the transcribed but untranslated region
mRNA processing affected |
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Term
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Definition
| If complete sequence of an intron is not known it can be referred to as |
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Term
| human mutation rates; achondroplasia |
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Definition
Expressed as new mutations per locus per generation
Estimated from new sporadic cases of suitable disorders
Autosomal dominant or X-linked
Fully penetrant
Phenotype detectable at birth; give an example |
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Term
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Definition
| what is the average rate approximately mutations per locus per generation |
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Term
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Definition
| spermatogonium will accumulate ___ mutations for each division before meiosis Each diploid |
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Definition
| where is oogonium arrested. |
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Definition
| how many mitotic divisions occur in females before birth |
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Term
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Definition
in these disease; Achondroplasia
Apert, Pfeiffer, Crouzon
MEN2 the ___ is most responsible for them because of the more mitotic divisions that occur |
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Term
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Definition
| DMD caused by point mutations is 90% |
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Term
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Definition
| DMD caused by deletions is 80% |
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Term
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Definition
| is caused by a massive repeat expansion that is paternal in origin |
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Term
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Definition
| CGG expansion in fragile X is usually |
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Term
| single nucleotide polymorphism (SNPs) |
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Definition
| Usually 2 possible allels (2 different nucleotides) (1/1000 bp) average of 3*10^6 differences between any two human genomes and more than 1*10^7 variant positions in human genome and a subset of these are used as genetic markers for gene mapping |
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Term
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Definition
| short tandem polymorphism (2,3, or 4 nucleotides) repeated 1-30 times; different alleles have different numbers of repeats and there are many possible alleles |
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Term
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Definition
| variable number tandem repeats 10-100 bp, 10^2, 10^3 copies; some VNTRs involved in disease with 30-40 different alleles are highly informative |
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Term
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Definition
| one probe can detect multiple loci by using this method...this has been used for DNA fingerprinting (now replaced by microsatellite PCR technique) |
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Term
| Copy number Polymorphisms |
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Definition
| large sequences of genome (200b- 2Mb) may be single or multiple copy, too small for cytogenic detection but too big for DNA sequencing and recently studied by Comparative Genome Hybridization |
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Term
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Definition
| Individuals are heterozygous in ___ of all protein coding loci causing different AA sequences |
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Term
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Definition
| has A antigens and anti-B antibodies |
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Term
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Definition
| has B antigens and anti-A antibodies |
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Term
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Definition
| has A &B antigens and neither antibodies |
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Term
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Definition
| has neither A or B antigens and both antibodies |
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Term
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Definition
| locus on Chromosome 9 there are 3 possible alleles; A &B codominant, and O recessive. The terminal sugar on the H antigen glycoprotein determines the antigen type |
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Term
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Definition
| this terminal sugar gives B type antigen |
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Term
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Definition
| what blood type is given if there is an absence of a terminal sugar; the allele of this blood type has a 1 bp deletion causing a frame shit and null transferase activity |
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Term
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Definition
| this terminal sugar gives A type antigen |
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Term
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Definition
| this has RhD antigen produced by the RHD gene |
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Term
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Definition
| this factor is homozygous for a non-expressed from of the gene |
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Term
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Definition
| develop anti-Rh antibodies to Rh+ blood from fetus |
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Term
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Definition
| Class I and Class II genes of the major histocompatibility complex code for?? |
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Term
| Class I Genes (HLA-A, HLA-B, HLA-C) |
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Definition
| all nucleated cells, integral part of cell membranes, have a heavy chain (MHC coded) and Beta-2 microglobulin (not polymorphic); intracellular proteins degraded to peptides by large multifunctional protease to bind to HLA and they are visible to T lymphocytes |
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Term
| Class II (HLA-DP, HLA-Q, HLA-DR) |
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Definition
| these are heterodimer of alpha, beta units, presents peptides from exogenous proteins to T helper cells |
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Term
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Definition
| originally different alleles detected serologically, distinguishes alleles which cause reaction, panel of different anti-serum or reactive lymphocytes, if cells from two individuals react similarly to the panel, they have the same HLA type |
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Definition
| set of alleles present in one individual |
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Term
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Definition
| inflammatory condition of the spine and sacroiliac joints, B27 serotype has 150* greater risk, population dependent, Many B 27+ are subclinical, and only some B27 alleles cause this condition and some may be protective |
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Term
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Definition
| in this disease the common mutation is Cys282Tyr in HFE gene and HLA-A*0301 is found on the same MHC |
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