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Genetic Linkage

Second Gene Causes Retinoblastoma

This little boy has heritable retinoblastoma. The mutation originated in him, so he didn't inherit it, but he can pass it on.
In a list of famous genes, RB1 would probably be #1. It’s the tumor suppressor gene whose “loss of function” is behind the childhood eye cancer retinoblastoma, and that Alfred Knudson investigated to deduce the 2-hit mechanism of cancer.

In 1971, the idea that the normal function of a gene could be to prevent cancer was revolutionary. Now a study in Lancet Oncology finds that an amplified oncogene can cause the eye cancer too, with just one “hit.” Read More 
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Hidden Meanings in Our Genomes – And What To Do With Mendel

Gregor Mendel: should he stay or should he go (in textbooks)? (National Library of Medicine)
Summer reading for most people means magazines, novels, and similar escapist fare, but for me, it’s the American Journal of Human Genetics (AJHG). Perusing the table of contents of the current issue tells me what’s dominating this post-genomic era: information beyond the obvious, like a subtext hidden within the sequences of A,  Read More 
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Seeking a Second, More Specialized Opinion

A challenge of living with a genetic disease, especially a very rare one, is that the mutation may affect different body parts. A health care practitioner may not consider a patient’s inherited condition, especially if the most recognizable symptoms don’t fall into his or her specialty.

Shirley Banks discovered the importance of seeking a second, specialized opinion when the doctor she’d been seeing for many years had a disturbing reaction to a question.

The Long Road to a Diagnosis

The Banks family has osteogenesis imperfecta, (OI) which affects 1 in 20,000 live births.  Read More 
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