Results and Discussion: Autosomal Dominant Conditions Require Only One Mutation To Show Themselves

CHAPTER III RESULTS AND DISCUSSION
Except for a few special cases, it doesn't really matter which parent gave you which gene. If a gene version is dominant, it will dominate whether it came from mom or dad. So your chances of getting a dominant trait don't depend on which parent it came from. If mom gives you the dominant brown eye version of an eye color gene, odds are you'll end up with brown eyes. Same thing if dad passes the same gene. In neither case would you have higher odds for getting brown eyes. Now that isn't to say that if mom has brown eyes then all her kids will too. They could end up with the other parent's recessive blue or green eyes. Or an eye color that neither parent has! This is how brown-eyed parents end up with a blue-eyed child. Or how two parents who don't have red hair have a redheaded baby. As you can see, genetics is a complicated business. But one thing we do know...no one is more likely to favor one parent over the other. Which traits you get depend on the combination of genes you get from both parents. (Arjun Adhikari, Stanford University - http://genetics.thetech.org/ask/ask432)
Chromosomes come in pairs in the cells nucleus. Humans have 46 chromosomes in each cell nucleus, which are actually 23 pairs of chromosomes. For 22 of these pairs, numbered chromosome 1 through chromosome 22, the chromosomes are the same; that is, they carry genes for the same traits. One chromosome comes from a persons mother, the other from his father. The 23rd pair is an exception and determines gender. The 23rd chromosomal pair differs according to whether youre a male or a female. Males have an X and a Y chromosome, while females have two Xs for this 23rd pair of chromosomes. Every female gets one X chromosome from her mother and one X from her father. Every male gets an X chromosome from his mother and a Y from his father.
Y chromosomes are unique to males and, in fact, determine maleness. If a man passes to his child an X chromosome from this 23rd pair, it will be a girl; if he donates a Y, it will be a boy. Autosomal dominant conditions require only one mutation to show themselves. When specialists use the term autosomal dominant, they mean that the genetic mutation is on an
autosome, one of the chromosomes thats not an X or a Y. They also mean that the condition caused by the mutation can occur even if only one of the two paired autosomes carries the mutation. Its a way of saying that the mutated gene is dominant over the normal gene. In autosomal dominant disorders, the chance of having an affected child is 50 percent with each conception.
Autosomal recessive conditions require two mutations to show themselves. When they use the term autosomal recessive, they mean that the disorder is again located on chromosomes that arent Xs or Ys. However, when a disorder is recessive, it takes two mutated genes to cause a visible disorder in a person. The word recessive comes from the idea that, when only one gene mutation exists, it may remain undetected (recede into the background) for several generations in a family until someone has a child with another person who also has a mutation in that same autosomal gene. Then, the two recessive genes can come together in a child and produce the signs and symptoms of a genetic disorder. You can think of recessive genes as weaker than dominant genes, in that it takes two of them to cause a problem.
People with one gene mutation for disorders that require two to produce the disorder are said to be carriers of the disorder. Carriers are usually protected from showing symptoms of a genetic disease by the presence of a normal corresponding gene on the other chromosome of each chromosome pair. Sometimes, biochemical or other electrical testing, or certain conditions (for example, vigorous exercise or fasting) will reveal subtle cellular abnormalities in carriers of various genetic conditions. In autosomal recessive disorders, the chance of having an affected child is 25 percent with each conception. X-linked disorders affect males and females differently. Another important inheritance pattern is the Xlinked pattern. X-linked disorders come from mutations in genes on the X chromosome. X-linked disorders affect males more severely than they do females. The reason is that females have two X chromosomes, while males have only one. If theres a mutation in an X -chromosome gene, the female has a second, backup X chromosome that almost always carries a normal version of the gene and can usually compensate for the mutated gene. The male, on the other hand, has no such backup; he has a Y chromosome paired with his sole X.
In reality, females sometimes have disease symptoms in Xlinked conditions despite the presence of a backup X chromosome. In some X-linked disorders, females routinely show symptoms of the disease, although theyre rarely as serious (or lethal) as those in the males. Some experts prefer the term X-linked recessive for the type of X-linked disorder in which females rarely show symptoms and X-linked dominant for the type in which females routinely show at least some disease symptoms. Females with mild or no disease symptoms who have one mutated gene on an X chromosome and a normal version of the gene on the other X chromosome are called carriers of an X-linked disorder. In X-linked recessive disorders, when the mother is a carrier, the chance of having an affected child is 50 percent for each male child. If the father has the mutation and is able to sire children, boys wont be affected because they receive only a Y chromosome from him. Girls receive his X chromosome and will be carriers.
(http://mda.org/publications/facts-about-genetics-and-NMDs/genetic-disorders-inherited)

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CHAPTER III RESULTS AND DISCUSSION

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