Analysis of HLA Recombinant Families by Southern Blots

Thomsen, Mögens; Alvarez, C Fernández; Carpenter, Charles B.

doi:10.1007/978-1-4612-3552-1_263

Cited by 3 publications

(2 citation statements)

References 12 publications

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“…Cellular DP typing for DPl-6 was done with 9th workshop reagents as described previously (7,13). RFLP studies were performed on the family during the 9th international histocompatibility workshop (famXy OHA103) and the following year according to the workshop protocols (14). In the present study the children are indicated according to birth order, in the 9th workshop the order was child 2, 3, 1 and finally child 4.…”

Section: Methodsmentioning

confidence: 99%

“…-Presence or absence of bands observed on southern blots. The AFLP fragments are selected from those tested during the 9th international histocompatibility workshop (14) except the DDB fragments that have been determined later. The long DPB fragments have not been included because of contradictory results probably due to cross-hybridization of the probes with DRB fragments.…”

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confidence: 99%

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Localization of the recombination points in a family with two DR/DP recombinations

Thomsen¹,

Cullen

Carrington

et al. 1996

Tissue Antigens

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In a family with a maternal DR/GLO recombination, cellular DP typing showed it to be located between DR and DP. RFLP studies done during the 9th international histocompatibility workshop gave anomalous segregation patterns of DPA and DPB bands that could be interpreted as being due to a second, paternal DR/DP recombination. This assumption was confirmed later by PCR-SSO typing. A more precise mapping has been done by new markers showing the maternal recombination to be within the TAP2 locus and the paternal recombination to be between DQB1 and DQB3. This supports earlier suggestions of a hot spot of recombination in the TAP region. The recombinations involve parental haplotypes that presently show DR/DP linkage disequilibrium in the French population and it is proposed that DR/DP recombinations occur randomly while B/DR recombinations preferentially occur on haplotypes without strong linkage disequilibrium. Existing DR/DP linkage disequilibria in a given population will thus be broken down with time. The mixed lymphocyte culture response towards an isolated DP difference was tested in this and another DR/DP recombinant family. It showed that an alloresponse towards DP may be highly variable and this suggests that it might be important to define the rules for the strength of this reaction and the possible implications for allotransplantation.

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Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

Localization of the recombination points in a family with two DR/DP recombinations

Thomsen¹,

Cullen

Carrington

et al. 1996

Tissue Antigens

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Recombination Fractions in the Hla System Based on the Data Set ‘Provinces Françaises’: Indications of Haplotype‐specific Recombination Rates

Thomsen

Neugebauer

Arnaud

et al. 1994

Int J Immunogenetics

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In the large genetic survey "Provinces Françaises' the recombination fractions in the HLA system have been estimated by a family analysis programme (FAP). A total of 1332 families were analysed and in general the findings were in agreement with recombination fractions reported previously. The maternal recombination rates were on average 1.8 times higher than the corresponding ones for males. The comparison of the recombination fractions with the corresponding physical distances suggests the existence of hot spots of recombination. The analysis did not show deviations from expected values for HLA-A and B alleles on HLA-A/B recombinant haplotypes. However, analysis of HLA-B/DR recombinant haplotypes showed a skewed distribution of B and DR alleles. The significance of the findings is difficult to evaluate as all results are estimated numbers and frequencies but a manual analysis of the recombinant families confirmed the observations. HLA-B/DR recombinant haplotypes carried often HLA-DR3 and DR11 whereas DR2 and DR7 were more rarely present on recombinant haplotypes. DR4 had an increased incidence on BF/DR recombinant haplotypes but not on A/B or B/BF recombinant haplotypes. Some of the haplotypes with the strongest linkage disequilibria as A1,B8,DR3 and A3,B7,DR2 seem to be less frequently involved in recombinations than other haplotypes. Variations of recombination rates depending on certain alleles or haplotypes might partially explain the conservation of some haplotypes or part of haplotypes in Caucasoids.

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Bone Marrow Transplants in Patients Lacking an HLA-Matched Sibling Donor

O’Reilly¹

1991

Pediatr Ann

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Analysis of HLA Recombinant Families by Southern Blots

Cited by 3 publications

References 12 publications

Localization of the recombination points in a family with two DR/DP recombinations

Localization of the recombination points in a family with two DR/DP recombinations

Recombination Fractions in the Hla System Based on the Data Set ‘Provinces Françaises’: Indications of Haplotype‐specific Recombination Rates

Bone Marrow Transplants in Patients Lacking an HLA-Matched Sibling Donor

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