Alport's syndrome:What's the name of the mutation? Where is it located? If a woman has a single mutation what clinical picture would she have?
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Genetic disease in which a mutation causes Alport syndrome (AS). The syndrome affects the kidneys, the ears, and the eyes. Affected men in the family died early as a result of their kidney problems, whereas females showed mild symptoms. The syndrome is located on the X chromosome, and the gene responsible for Alport syndrome is called COL4A5. Susan and Philip have 2 children: a 12-year old daughter and a 15-year old son, Joe, who already has kidney problems. Marianne is healthy. Susan had a brother who died of Alport syndrome, but her parents are unaffected. Susan and Philip are expecting another child. They are concerned with the chance of having a son and the probability of their next child having Alport syndrome.
Sri K.
Look at the following karyotype of a young male, aged 5 months old: a. The diagram is highlighting a specific portion of a chromosome in this karyotype. Presuming that there was an abnormality in a gene detected at this chromosomal location, what autosomal disease would be indicated?
Adi S.
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