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A conceptual approach of genetics (Sixth edition): Part 2

(BQ) Continued part 1, part 2 of the document A conceptual approach of genetics (Sixth edition) has contents: The genetic code and translation, the genetic code and translation, control of gene expression in eukaryotes, quantitative genetics, population genetics, evolutionary genetics, cancer genetics, and other contents. Invite you to refer. | A conceptual approach of genetics (Sixth edition): Part 2 CHAPTER 15 The Genetic Code and Translation The spleen, an organ found in the upper abdomen, plays an important role in defense against infection. Isolated congenital asplenia is an autosomal dominant condition in which children are born without a spleen. [Sebastian Kaulitzki/Shutterstock.] A Child Without a Spleen T he spleen is an often underappreciated organ. Brownish in color and weighing about a third of a pound, it sits in the left upper part of your abdomen, storing blood and filtering out bacteria and old blood cells. The spleen is underappreciated because it’s widely believed that you can live without a spleen. Indeed, many people who lose their spleen to automobile accidents and other trauma do survive, although they are at increased risk of infection. But a young child without a spleen is in serious trouble. A small group of children are born without spleens; these kids are highly susceptible to life-threatening bacterial infections, and many die in childhood. This rare disorder, known as isolated congenital asplenia (ICA), is inherited as an autosomal dominant trait. Except for the absence of a spleen, children with ICA are unaffected. But their immune function is severely compromised. When infected with bacteria that the immune system normally eliminates, these children develop raging infections that quickly spread throughout the body. Even when treated with modern antibiotics, they often die. In 2013, an international team led by scientists from Rockefeller University discovered the genetic cause of ICA. Using the power of DNA sequencing, they examined all the coding DNA of 23 individuals with ICA and compared their DNA sequences with those of 508 individuals with normal spleens. Statistical analysis pointed to differences in one particular gene that was associated with ICA, a gene encoding ribosomal protein SA (RPSA). The RPSA protein is one .