Molecular diagnosis, part 1

Article Abstract:

Molecular biology has revolutionized the diagnosis of certain genetic disorders. Molecular techniques can detect a genetic disorder long before it causes symptoms and even prenatally. It requires only a DNA sample from blood cells and can be done in one day. One serious limitation is the variable genetic defect that occurs in many genetic disorders. Seventy percent of cystic fibrosis patients have the same mutation, but more than 200 different mutations have been found in the remaining 30% of patients. In addition, all animals and humans have two copies of each chromosome, so any gene defect on one chromosome will be masked by the normal gene on the other chromosome. The polymerase chain reaction, Southern blot analysis and fluorescence in situ hybridization are molecular techniques for detecting large deletions of genetic material. It is harder to detect insertions and duplications of genetic sequences.

Diagnosis, Genetic disorders, Molecular probes

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Molecular diagnosis

Article Abstract:

Few laboratory techniques exist to distinguish between normal genetic variation and genetic mutations. The most common molecular diagnostic tests include manipulation of the polymerase chain reaction (PCR) at the DNA site. One approach is the amplification of DNA portions at a mutation location by oligonucleotide probes. An alternative method relies on the specificity of the PCR reaction, amplifying either the wild-type or mutant DNA. These techniques can detect small mutations or changes in DNA. Newly discovered genetic mutations are triplet repeats showing a much wider band by Southern blot analysis. Triplet repeats are present in the fragile X syndrome and in other diseases affecting the nervous system.

Methods, Analysis, Polymerase chain reaction, DNA polymerases, Molecular genetics

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Hutchinson-Guilford progeria syndrome, aging, and the nuclear lamina

Article Abstract:

The Hutchinson-Guilford progeria syndrome, a rare degenerative disease causing premature ageing, and the lamina gene causing the ailment is discussed.

United States, Science & research, Children, Health aspects, Care and treatment, Research, Progeria

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