The major histocompatibility complex (HLA) as a genetic marker in human craniofacial anomalies.
Study of the incidence and segregation of the serologically detectable A and B products of the HLA complex in 140 family units in which one or more offspring was afflicted with a developmental craniofacial anomaly has uncovered no evidence of an association between HLA-A or B antigens or haplotypes and the malformations under study. Further analysis of HLA-D products in the same family units by the mixed leukocyte culture (MLC) technique has, however, uncovered a relatively high incidence of non-reactivity between the cells of one (or both) parent(s) and cells of some offspring in 41 of the 140 families included in this study. The parent couples involved in this finding were unrelated and generally did not share any HLA-SD haplotypes. When this finding was studied further by Primed LD Typing techniques, the results in six families suggested that such MLC non-reactivity is a consequence of the sharing of LD alleles by each pair of parents in these families. The known polymorphism of the HLA-D locus (or loci) and the low incidence of comparable findings in the normal population suggest that LD allele sharing in this particular population may be related to the selection of certain particular HLA-D products in families afflicted with developmental craniofacial anomalies. This result may be relevant to the possible existence in man of an analogue of the murine T/t complex which may occur in linkage with the HLA complex, in the same manner as the linkage disequilibrium which is been documented between the t complex and H-2 in chromosome 17 of the mouse.
Rapaport
F T
FT
Department of Surgery, State University of New York at Stony Brook, Health Sciences Center, New York 11794, USA.
Bach
F H
FH
Bachvaroff
R J
RJ
McCarthy
J G
JG
Raisbeck
A P
AP
Egelandsdal
B
B
Converse
J M
JM
D000328:Adult; D000483:Alleles; D002648:Child; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006680:HLA Antigens / Q000032:analysis / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006650:Histocompatibility Testing; D006801:Humans; D007959:Lymphocyte Culture Test, Mixed; D008297:Male; D010290:Parents; D010375:Pedigree; D035781:Siblings; D044465:White People / Q000235:genetics
D005819:Genetic Markers; D006680:HLA Antigens