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Mutation Screening of the Low-Density Lipoprotein Receptor Gene in Japanese Patients with Familial Hypercholesterolemia from the Kanto Area
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- Hirota Ryoji
- Omiya Medical Center
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- Kubo Nobuhiko
- Department of Clinical Laboratory Medicine, Jichi Medical School
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- Hikiji Kazumasa
- Center for Molecular Biology and Cytogenetics, SRL, Inc.
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- Nakajima Kumiko
- Department of Medicine and Gerontology, Kyorin University School of Medicine
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- Hata Yoshiya
- Department of Medicine and Gerontology, Kyorin University School of Medicine
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- Sakurabayashi Ikunosuke
- Omiya Medical Center
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Description
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.
Journal
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- SEIBUTSU BUTSURI KAGAKU
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SEIBUTSU BUTSURI KAGAKU 47 (3), 105-110, 2003
Japanese Electrophoresis Society
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Details 詳細情報について
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- CRID
- 1390282679177827456
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- NII Article ID
- 130003607305
- 10012732068
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- NII Book ID
- AN00129729
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- ISSN
- 13499785
- 00319082
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- NDL BIB ID
- 6688412
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- Text Lang
- en
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- Article Type
- journal article
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- Data Source
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- JaLC
- IRDB
- NDL Search
- Crossref
- CiNii Articles
- OpenAIRE
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- Abstract License Flag
- Disallowed