Word: genes
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Dates: during 2000-2009
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...1930s, two families, the Jessops and the Barlows, settled the area around Hildale, Utah, along the border with Arizona, where they founded the FDLS - and began handing down to their descendants a recessive gene for a severe form of mental retardation called Fumarase Deficiency. The birth defect has become increasingly prevalent within the FLDS community since 1990 when it was first identified by Dr. Theodore Tarby, an Arizona pediatric neurologist, now retired but formerly with the Children's Rehabilitative Services in Phoenix. He saw his first case when an FLDS mother brought her severely retarded son to see him. Tarby...
Until 1990 Tarby says he knew of only 13 cases of Fumarase Deficiency worldwide. Since, it has taken hold in the FLDS community because of intermarriage. "If you have two parents with the gene," Tarby says, "you are going to have a one-in-four chance of having a child afflicted with it." Depending on the severity of the disorder, children may die in childhood or may survive into early adulthood; if a person who has developed the disorder goes on to have a child, his or her chances of passing it on are one in two. But diagnosing...
...FLDS community, by and large, rejects the idea that Fumarase Deficiency is caused by genes, according to Tarby. "They have their mythology about the condition. They think it's something in the water, or something in the air," he says. Before Tarby retired in 2007, FLDS leaders invited him to address the community about the disorder and how to prevent it. He told them that prevention would involve barring marriages between people with the recessive gene, or asking those couples to forgo children. He suggested that families discontinue having children once the disorder presents itself, or test for the gene...
...researchers—Mark Fleming of Children’s and Nancy Andrews, formerly of Children’s and now dean of Duke Medical School—found that the cause of the inability to respond to oral iron supplements is mutations in a gene called TMPRSS6...
...study shows that IRIDA may reflect more extreme mutations of the TMPRSS6 gene, which indicates that there may be a genetic basis for IRIDA...