1988 Fiscal Year Final Research Report Summary
An Approach to Diagnosis and Carrier Detection for X-linked Agammaglobulinemia (Bruton type) by using Restriction Fragment Length Polymorphism analysis
| Project/Area Number |
61570451
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Nagoya University |
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Principal Investigator |
MATSUOKA Hiroshi NAGOYA UNIVERSITY, 医学部, 助手 (50157278)
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| Co-Investigator(Kenkyū-buntansha) |
KUROSAWA Yoshikazu FUJITA-GAKUEN HEALTH UNIVERSITY, Professor, 医学部, 教授 (10109259)
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| Project Period (FY) |
1986 – 1988
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| Keywords | X-linked disease / Primary immunodeficiency disease / Bruton type agammaglobulinemia X-chromosome gene mapping / X染色体マッピング / DNA断片多形性 |
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| Research Abstract |
1. Nine DNA prodes were prepared from the phage library of human X-chromosome and mapped on human chromosome X.
2. Frequency of RFLPs of these probes was found to be very low, 0.1 or 0.2 %. this may reflect the character of X chromosome.
3. The linkage analysis of a family with Bruton-type agammaglobulinemia (XLA) using RFLPs showed that the significant linkage of a X-chromosome long-arm probe (DXS17;S21) to the disease locus for XLA. The other sixteen DNA prodes including DXS4;99-6 could not show the significant linkage.
4. The results of RFLPs analysis of this XLA family were not informative enough to identify the xla carrier.
5. We propose that the carrier status of XLA should be carefully diagnosed by using not only RFLPs analysis but also non-random X-chromosome inactivation in B lymphocytes of at-risk females in X-linked pedigree.
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