User:Z3331556

Attendance

--Z3331556 12:55, 28 July 2011 (EST)

--z3331556 11:57, 4 August 2011 (EST)

Lab 1

1. Identify the origin of In Vitro Fertilization and the 2010 nobel prize winner associated with this technique.

The first successful IVF occurred in the UK in 1978 and Robert G. Edwards was awarded the Nobel Prize for this technique in 2010.Lecture - 2011 Course Introduction

2. Identify a recent paper on fertilisation and describe its key findings.

"Improved pregnancy rate with administration of hCG after intrauterine insemination: a pilot study" by Ilkka Y Järvelä, Juha S Tapanainen and Hannu Martikainen. Published on 23 February 2010 by Reproductive Biology and Endocrinology journal. They found that Intrauterine insemination (IUI), a common fertility treatment, improved pregnancy rate when hCG (human chorionic gonadotrophin)was administered after instead of before IUI. Pregnancy rates were 10.9% when hCG was given before IUI and 19.6% when hCG was given after IUI.[1]

3. Identify 2 congenital anomalies.

-Trisomy 21 (Down Syndrome) occurs when an extra copy of chromosome 21 is present -Myelodysplasia (Spina bifida) is a condition where the fetus' spin fails to close in the first few months of pregnancy

--Mark Hill 10:10, 3 August 2011 (EST) These answers are fine.

Lab 2

2.

J Hum Genet. 2009 Apr;54(4):193-8. Epub 2009 Mar 13. William's syndrome: gene expression is related to parental origin and regional coordinate control. Collette JC, Chen XN, Mills DL, Galaburda AM, Reiss AL, Bellugi U, Korenberg JR. Source

Division of Neurogenetics, Cedars-Sinai Medical Center and Departments of Human Genetics and Pediatrics, UCLA, Los Angeles, CA, USA. Abstract

William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5 MB deletion that includes about 24-28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.

PMID:19282872[2]