(sabkÉnËtrÓktÉ) , ((American) sabËkontraktÉr) noun. a person who undertakes work for a contractor and is therefore not directly employed by the person who wants such work done. The building contractor has employed several subcontractors to build the block of flats.
Furthermore, three unrelated fragile X patients were found with a C-to-T point mutation at the 14th nucleotide in intron 10 with normal length CGGÂ·CCG repeats (Fig. 1F) (42). Clearly, these point mutations are sufficient for the development of the fragile X syndrome.
Since two copies of the mutant gene cause the disease phenotype, a person can survive with one functional copy, and as such they are termed carriers. Having one functioning copy is sufficient to prevent the disease condition. However, when there are genetic mutations in both copies, the disease will be present.The condition is caused by the inability of the body to transport chloride ions into and out of cells due to the mutated CFTR gene. Gradually this leads to a blockage of the lungs and pancreas.owever, when there are genetic mutations in both copies, the disease will be present. The condition is caused by the inability of the body to transport chloride ions into and out of cells due to the mutated CFTR gene.