| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
|
| D002872 |
Chromosome Deletion |
Actual loss of portion of a chromosome. |
Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies |
|
| D002886 |
Chromosomes, Human, Pair 17 |
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. |
Chromosome 17 |
|
| D003062 |
Codon |
A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE). |
Codon, Sense,Sense Codon,Codons,Codons, Sense,Sense Codons |
|
| D005260 |
Female |
|
Females |
|
| D006579 |
Heterozygote |
An individual having different alleles at one or more loci regarding a specific character. |
Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D000483 |
Alleles |
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. |
Allelomorphs,Allele,Allelomorph |
|
| D014594 |
Uterine Neoplasms |
Tumors or cancer of the UTERUS. |
Cancer of Uterus,Uterine Cancer,Cancer of the Uterus,Neoplasms, Uterine,Neoplasms, Uterus,Uterus Cancer,Uterus Neoplasms,Cancer, Uterine,Cancer, Uterus,Cancers, Uterine,Cancers, Uterus,Neoplasm, Uterine,Neoplasm, Uterus,Uterine Cancers,Uterine Neoplasm,Uterus Cancers,Uterus Neoplasm |
|
| D016133 |
Polymerase Chain Reaction |
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. |
Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain |
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