Weekly KromoNews: Volume 5, Issue 3
Editor's Note
Let me take a minute to point out the rather rudimentary genetic term featured this week: Allele. This is the 5th year of KromoNews, and of course this is a very basic concept in genetics. However, many people still seem to consider an allele as only one of two different forms. In reality, allele is simply our terminology to characterize a specific subsequence of DNA. That subsequence may be coding for a certain protein, or may be not. Since many subsequences can technically exist, many different forms of gene are theoretically possible, and no allele need be identified as "normal" or "abnormal". Indeed an individual may have a sequence that has not been seen before, and even not characterized before, in which case we may need to define a "new" allele.
A brand new google gadget "Gene of Day" is available for you. You can add it to your google dashboard or your homepage by clicking here:
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This Week in Genetics
Effects of progesterone on preterm births may be altered by genetics
Jan 31, 2009
New research that may explain why taking progesterone to prevent preterm birth is only effective for some women was unveiled at the 29th Annual Society for Maternal-Fetal Medicine (SMFM) meeting – The Pregnancy Meeting. The drug, 17 alpha-hydroxyprogesterone caproate (or 17P), a synthetic form of the progesterone hormone naturally produced during pregnancy, has been demonstrated in clinical trials to prevent some recurrent preterm births – but not all. This study helps strengthen the theory that genetic variation in the human progesterone receptor plays an important role in the effectiveness of 17P.
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Gene mutations linked to aggressive prostate cancer
Jan 29, 2009
Men who develop prostate cancer face an increased risk of having an aggressive tumor if they carry a so-called breast cancer gene mutation, scientists report. The findings could help to guide prostate-cancer patients and their physicians in choosing treatment options. The study, involving 979 men with prostate cancer and 1251 men without the disease, looked at whether participants carried mutations for either of two genes, BRCA1 and BRCA2.
[Clinical Cancer Research]
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Link between genetics and development of psoriasis established
Jan 25, 2009
Researchers have identified genes that play an important role in the development of psoriasis, a common chronic skin disease. Studying genetic variants in the human genomes of a large cohort of patients with psoriasis and healthy controls in the Chinese population one of the three independent teams that have been simultaneously performing genetic studies on psoriasis, found that a genetic variant within what is known as the LCE gene cluster is able to provide protection against the development of psoriasis.
[Nature Genetics]
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Featured Genetic Test: Response Dx: Colon™
ResponseDX: Colon™ comprises three tests.
ERCC1 Gene Expression
Cisplatin, oxaliplatin and carboplatin constitute an important class of drugs for the treatment of a variety of cancers. For platinum therapies, one of the critical determinants is the excision repair complementing factor 1 (ERCC1), which is part of the nucleotide excision repair pathway that is activated in cells to repair DNA damage caused by the platin drugs. Low expression of ERCC1 has consistently been found to be a favorable indicator for response of tumors and/or improved survival after platinum therapy while high ERCC1 expression is associated with resistance to platinum therapy and shorter survival in many types of cancer including those of the GI tract: colorectal (1), gastric (2,3) and esophageal (4). In the case of colorectal cancer (CRC), a widely used combination chemotherapy is oxaliplatin together with 5-fluorouracil (5-FU)(the FOLFOX regimen) (5). In 2001, RGI participated in a study which showed that ERCC1 mRNA expression levels predicted the clinical outcome of patients with advanced CRC treated with FOLFOX (1). Since high expression of ERCC1 may actually increase the response rate to irinotecan therapy (6), the FOLFIRI regimen (5-FU plus irinotecan) (7), which has almost identical overall efficacy to FOLFOX (8), provides an alternative option for patients with high tumor levels of ERCC1.
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Upcoming Genetics Event
Colon Cancer in Murine Models and Humans III |
| When: | Tue Oct 6, 2009 to Fri Oct 9, 2009 |
| Title: | Colon Cancer in Murine Models and Humans III |
| Description: | This conference focuses on modeling human colon cancer in rodents. The conference will discuss the development and validation of accurate preclinical rodent models and their use in translational cancer research. The objective is to bring together basic and clinical researchers to discuss recent data on the molecular and tumor biology of human cancer initiation and progression and their correlates and approaches to modeling in rodents. |
| Where: | The Bar Harbor Club, Bar Harbor, Maine, United States |
| Contact: | Barbara Donovan |
| Email: | barbara.donovan@jax.org |
| Website: | http://courses.jax.org/2009/coloncancer09.html |
Genetics Term of the Week: Allele
Allele: An allele is a form of a gene that is located at a specific position on a specific chromosome. Organisms have two alleles for each trait. While usually, an allele is considered to be one of two, or a series of forms of a gene, theoretically allele can be one of many sequences for that gene. As an example, hundreds of alleles (different sequences) have been identified for the HLA genes.
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Trivia!
Committee for the Prevention of Jewish Genetic Disease: Committee for the Prevention of Jewish Genetic Disease is an organization in the United States that organizes the voluntary testing of blood samples collected from school children. When a couple is considering marriage, they can call a number and quote their anonymous sample numbers received at the time of testing. If the couple are both carriers of a genetic disorder, marriage is discouraged.
This program was initially criticized by many, but the practical results have been found to be positive.
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