Difference between revisions of "Vocabulary"

Revision as of 15:05, 24 January 2017

5mCpG

Androgenic hydatidiform mole: An abnormal pregnancy with grossly swollen chorionic villi, but without an embryo, cord, or amniotic membranes. It is diploid with paternal chromosomes because of a failure of the female pronucleus during fertilization. The two sets of paternal chromosomes come from a diploid sperm or haploid sperm which has duplicated.

Bisulfite conversion

Capillary electrophoresis: a technique that separates DNA fragments amplified by PCR according to their electrophoretic mobility

CpG Islands/Sites: CpG sites are regions of the DNA where a cytosine is followed by a guanine in the linear sequence of bases (5' --> 3'). CpG Islands are short interspersed DNA sequences that deviate significantly from the average genomic pattern by being GC-rich, CpG-rich, and predominantly nonmethylated. Most, CGIs are sites of transcription initiation, including thousands that are remote from currently annotated promoters.

DMR:differentially methylated region; stretches of DNA in an organism’s genome that have different DNA methylation patterns compared to other samples

gDMR

hESC

HhaI: a methylation sensitive restriction enzyme that won’t cleave DNA in methylated region.

ICR: (imprinting control region) imprinting is an epigenetic process which the methylation of a parental gene is inherited and replicated by the offspring. ICRs are non-coding RNAs and DMRs that control the imprinting of one or more genes

MSRE-PCR: methylation sensitive restriction enzyme polymerase chain reaction. It can determine methylation status at a given CpG island

MT21: nuclear family trio with Down syndrome of maternal origin

N21:"normal" nuclear family trio without Down syndrome

NCBI GEO:

Nondisjunction: is the failure of homologous chromosomes or sister chromatids to separate properly during cell division. There are three forms of nondisjunction: -failure of a pair of homologous chromosomes to separate in meiosis I, -failure of sister chromatids to separate during meiosis II, and -failure of sister chromatids to separate during mitosis. Nondisjunction results in daughter cells with abnormal chromosome numbers (aneuploidy). this is the non-lethal form of nondisjunction that can result in Down's syndrome

Oogenesis: The development of a mature egg cell (ovum) from the primary oocyte.

Proband: A person that is used as the starting point for a family in a genetic study. A term used especially in medicine or psychiatry.

PT21: nuclear family trio with Down syndrome of paternal origin

rs#: “Reference SNP” - way to reference specific SNPs (Single Nucleotide Polymorphisms)

SNP: single nucleotide polymorphisms; difference in a single nucleotide at a specific position; the most common type of genetic variation among people

SNuPE

SRA: (sequence read archive) large database online which stores high-throughput sequencing data for researchers to compare and contrast

STR: (Short tandem repeats) A region of the DNA two-thirteen bases long that is repeated up to hundreds of times. These regions can be used to trace lineage

TSS: (Transcription Start Site) location where transcription starts in the genome. These occur on the 5' end a number of base pairs away from the promoter

WRB: Tryptophan Rich Basic Protein coding gene. This gene codes for a nuclear protein of unknown function. Known as a critical region for Down Syndrome because it is linked to congenital heart disease and heart disease.