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SUMMARY Forty-one unrelated Japanese patients with heterozygous familial hypercholesterolemia (FH) from the Kanto area (central region) of Japan were screened for mutations in the LDL receptor gene using the polymerase chain reaction (PCR)-restriction enzyme fragment length polymorphism (RFLP) and PCR-heteroduplex analysis methods, followed by sequencing and Southern blotting. Four previously described mutations, 1845+2T->C (by PCR-RFLP), and D412H, K790X and 327insC (by heteroduplex analysis), were positively identified. In 36 (83.7%) of the patients, mutations were not detected, and the detection rate was lower than previously reported from other regions of Japan. Our results suggest that in the Kanto area, a wide variety of the mutations may be associated with FH, and further refinement of this strategy is required to screen effectively for this disease.

Mutation Screening of the Low-Density Lipoprotein Receptor Gene in Japanese Patients with Familial Hypercholesterolemia from the Kanto Area