2010年2月17日 · Some of the more common single-gene disorders include cystic fibrosis, hemochromatosis, Tay-Sachs, and sickle cell anemia. Single gene disorders are among the most well-understood genetic disorders given their straightforward inheritance patterns (recessive or dominant) and relatively simple genetic etiology.

More than 1,000 different variations (alleles) of the CFTR gene have been identified in people with CF. The most common (in 70% of people with CF) is a three-base deletion in the DNA sequence, causing a single amino acid to be missing from the protein product.

2015年3月19日 · In single-gene diseases, a mutation in just one of these genes is responsible for disease. Single-gene diseases run in families and can be dominant or recessive, and autosomal or...

外显率是指具有等位基因（负责特定性状表达变异的基因的特定形式）并产生相应表型（性状）的人群的百分比。 例如，如果一半携带该基因的人都表现这种性状，该基因的外显率是 50%。 可能是完全外显，也可能是不完全外显。 不完全外显的基因通常不表达，即使产生这一性状的基因是显性基因，或虽为隐性基因，但两条染色体都存在。 特定基因的外显可能因人而异，可能取决于患者的年龄。 即使未表达特定等位基因（非外显)，未受影响的等位基因携带者也可能会将其传给 …

2023年12月20日 · Single gene disorders are a group of genetic diseases caused by a mutation or a defect in a single gene. These disorders are also known as hereditary or genetic diseases, as they are passed down from one generation to another through inheritance. Single gene disorders can vary in their severity and can affect different parts of the body.

2009年7月8日 · Genes, through the proteins they encode, determine how efficiently foods and chemicals are metabolized, how effectively toxins are detoxified, and how vigorously infections are targeted. Genetic diseases can be categorized into three major groups: single-gene, chromosomal, and multifactorial.

2024年5月15日 · Genetic testing looks for genetic changes, sometimes called mutations or variants, in your DNA. Some genetic changes can cause disease or other health conditions. You inherit your DNA from your parents, so any genetic changes they …

2010年2月17日 · This chapter provides some fundamental information about basic genetic concepts including cell structure, the molecular and biochemical basis of disease, major types of genetic disease, laws of inheritance, and impact of genetic variation.

2024年3月31日 · Genetics is the study of heredity, the process of a parent passing certain genes to their children. A person's appearance -- height, hair color, skin color, and eye color -- is influenced by genes. Other characteristics influenced by heredity are: An abnormal trait (variant) that is passed down through families (inherited) may:

2 天之前 · Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.