2024-03-28T08:50:17Z
https://niigata-u.repo.nii.ac.jp/oai
oai:niigata-u.repo.nii.ac.jp:00016191
2022-12-15T03:47:47Z
453:456
471:537:538:1099
3)血液疾患における遺伝子診断の現況(シンポジウム 遺伝子診断の最近の進歩, 第541回新潟医学会 )
3)血液疾患における遺伝子診断の現況(シンポジウム 遺伝子診断の最近の進歩, 第541回新潟医学会 )
3)The Way We Use the Molecular Methods for Clinics in Hematological Disorders.
古川, 達雄
molecular diagnosis
primary familial and congenital polycythemia
chromosomal translocation
minimal residual diseases
short tandem repeat
遺伝子診断
家族性多血症
染色体転座
微少残存病変
繰り返し配列
The use of molecular methods have identified genes and genetic changes associated with specific hematological disorders. The best known hematologic melecular markers include inherited erythrocyte and homeostasis disorders. Recently we detected a Japanese family with an autosomal dominant inheritance primary familial and congenital polycythemia (PFCP). Sequence analysis of RT-PCR product amplified from C-terminal regibn of erythropoietin receptor (EpoR) transcripts in these affected family member’s revealed that they were all heterozygous for C and T bases at position 5986, which implied the genetic mutation (C to T) on one allele of EpoR. Molecular changes associated with specific leukemias and lymphomas’ are useful in diagnosis, staging, prognosis, monitoring of residual disease, and evaluation of therapies. The vast majority of these changes are chromosomal translocation and identification of genes involved in the translocation revealed the abnormal chimeric genes. The high sensitivity of PCR amplification enabled us to detect minimal residual diseases and to detect early relapse. The rearrangements within genes of the immune system are good lineage markers and also good markers for clonal expansion in the tissues. STR (short tandem repeat) loci consist of short, repetitive sequence elements of 3 to 7 base pairs in length. These abundant repeats are well distributed throughout the human genome and are a rich source of highly polymorphic markers which often may be detected using the PCR. We have used these polymorphic markers to determine the engraftment of bone marrow donor hematopoietic stem cells or to detect the relapse of recipient’s leukemic cells as soon as possible.
新潟医学会
1999-02
jpn
departmental bulletin paper
http://hdl.handle.net/10191/46534
https://niigata-u.repo.nii.ac.jp/records/16191
AN00182415
00290440
新潟医学会雑誌
新潟医学会雑誌
113
2
90
94
https://niigata-u.repo.nii.ac.jp/record/16191/files/113(2)_90-94.pdf
application/pdf
941.1 kB
2019-08-07