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Cystic fibrosis is inherited in an autosomal recessive inheritance pattern. We have two copies of the CFTR gene, one from each parent. Both parents of a child with cystic fibrosis must pass a nonworking copy of the CFTR to that child. People with one working copy and one nonworking copy of the CFTR gene are carriers of cystic fibrosis and do not have the condition. If two carriers have a child, there is a 1 in 4 chance that the child will have cystic fibrosis.
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Causes of Cystic Fibrosis

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Cystic Fibrosis: Causes and Risk Factors

Chromosomal abnormalities and defective genes cause a variety of genetic disorders with specific features. This article is the last in a four-part series on genes and chromosomes. Genetic disease often leads to unviable embryos or babies with very short lifespans. Genetic diseases can be broadly classified into those affecting entire chromosomes chromosomal disorders and those affecting single genes single-gene defects. This article explores these diseases, explains their causes, describes their clinical features and depicts their rules of inheritance.
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Cystic Fibrosis

The sweat chloride test is the most common way gold standard to test for cystic fibrosis CF. To find a center near you, visit the CFF's website. Some DNA testing looks for common mutations gene changes seen in individuals with cystic fibrosis, while other DNA testing called sequencing looks at the whole CFTR gene to find any changes. Newborn screening looks for babies with unusually high immunoreactive trypsinogen IRT levels. In some states, the newborn screening test also includes testing for the most common mutations known to cause cystic fibrosis.
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Cystic fibrosis is an inheritable and life-threatening disorder that affects roughly 30, Americans and as many as , people worldwide. It is caused by a genetic defect in the cystic fibrosis transmembrane receptor CFTR gene, which creates the protein involved in the production of sweat, digestive fluids, and mucus. If there is a defect in this protein, it can lead to the abnormal accumulation of mucus in lungs, the blockage of digestive enzymes to the intestines, and other serious symptoms and complications. There are more than 2, known CFTR mutations.
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