Vocabulary

5mCpG

Androgenic hydatidiform mole

Bisulfite conversion

Capillary electrophoresis

CpG Islands/Sites

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

MSRE-PCR

MT21: nuclear family trio with Down syndrome of maternal origin

N21:"normal" nuclear family trio without Down syndrome

NCBI GEO Nondisjunction

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#

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

SNuPE SRA

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

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.