Biomedical subjects
Publications and source records attributed to S Philipps.
Peak lods (zeta) of 3.48 at an estimated recombination fraction (theta) of 0.28 derived from 63 male and 90 female meioses indicate linkage between the KEL and YT blood group loci. Consideration is given to two families; a realistic interpretation of the data increases zeta to 4.24 at theta = 0.26.
No distortion was found when the genetics of esterase D (EC 3.1.1.1) in family data was examined for sex-phenotype ratio.
The results of the present study provide independent support for F13A:HLA linkage and refine the F13A:HLA and F13A:GLO1 linkage relationships. Analysis of the corresponding recombination fractions for the total paternal F13A:HLA and F13A:GLO1 peak lod scores (z) indicates a locus order of 6pter:F13A:HLA:GLO1:cen. Lod scores between F13A and PLG, a locus recently assigned to chromosome 6, exclude close linkage between these loci.
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Serological analysis of the red cells from members of a large French-Canadian kindred proved that the Swa antigen is not part of the P1, Dombrock or Yt blood group systems. A linkage analysis of the SW blood group locus in relation to 27 other loci indicates that SW is not closely linked to ABO, ACP1, ADA, AK1, C3, D2S5, DO, ESD, F13A, FY, GLO1, GPT, HP, IGHG, JK, LU, MYCL, P1, PGP, PGM1, PLG, RH or YT. By inference the study also allows exclusion of Swa from the Landsteiner-Wiener, Radin and Scianna blood group systems and exclusion of SW from the p22.1 to p34 segment of chromosome 1.
The data establish linkage in both sexes for LDLR:LW (zeta = 8.43 at theta = 0.00) and in the male for LDLR:LU (zeta = 3.31 at theta = 0.00) and for LW:APOC2 (zeta = 3.90 at theta = 0.00). They confirm LDLR:C3 and APOC2:LU linkage in both sexes, and LW:LU linkage in the male. The loci constitute two tightly linked gene clusters, LDLR, C3, LW and APOC2, LU, SE, distinguished by measurable linkage in female meioses within but not between clusters. Argument is supported for a 19p13.2-cen position for LW and a long arm position for LU and SE.
Linkage analysis of six nuclear families with infantile hypophosphatasia which were informative for the Rh blood group locus was performed. The maximum combined lod score was 4.76 with the recombinant distance (theta) of 0.04. These preliminary data provide evidence for linkage between the genes for infantile hypophosphatasia and the Rh blood group and provisionally assign the gene locus for infantile hypophosphatasia (designated HOPS) to chromosome 1p.
Allele frequencies of Yta (YT1) and Ytb (YT2) in a series of 659 random Canadian Caucasians are comparable to those in European populations: 0.9469 and 0.0531, respectively. Inheritance of Yt phenotypes in 1,077 children in 286 selected families are in accordance with expectation on the basis of Mendelian codominance. Linkage studies exclude YT from chromosomal segments 1p36-1p22.1, 4q13-4q28, the section of chromosome 9 bounded by AB0 and AK1 and from the chromosome 19 linkage group bounded by LE and SE. Evidence is presented for a possible location of YT on the short arm of chromosome 6 distal to F13A.
No recombinants between LW and C3, using a C3 DNA probe, were observed in 16 female meioses: z 4.216 at theta = 0.00. Combined with the data of Sistonen (1984) the recombination fraction between LW and C3 is estimated to be 0.09 (z 3.773) in females.
Blood samples from a random series of Canadian Caucasians were phenotyped for 28 red cell enzyme systems and eight plasma protein systems. Polymorphism was found in 17 and rare variants in 11 of the systems. Allele frequencies are presented for these; distribution of phenotypes is in accordance with the Hardy--Weinberg equilibrium theory. In a complementary study of families there was no evidence of de novo mutation in any of the 36 systems and they allowed a minimum estimate of the frequency of null alleles in the ADA, C2, and GPT systems.
Ninety-eight alleles in 38 polymorphisms of blood are identified in the Schmiedeleut Hutterites. The study was initiated because of the presence of Wda, an allele found almost exclusively in Hutterites. Eight of the other alleles also have an exceedingly low incidence in a random white population: r'' (.006), R2w (less than .001), LWb (less than .01), ESD*rare (less than .001), GPT*0 (.004), NP*4 (less than .001), GOT2*3 (.001), and C6*0 (.002). The occurrence of this many rare alleles in a population with an estimated maximum of 124 ancestral genomes was surprising but consistent with observations in other isolates. The degree of heterozygosity and large family size make the population ideal for genetic linkage studies.
A previously undescribed autosomal dominant syndrome has been observed in a large kindred with affected relatives spanning at least five generations. The phenotype is highly variable and appears to show complete penetrance. Affected persons have a progressively coarse, acromegaloid-like facial appearance and thickening of the lips and intraoral mucosa. The differences are discussed between this syndrome and three rather similar syndromes, pachydermoperiostosis, the Ascher syndrome, and multiple neuroma syndrome.
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Accumulated family information was compiled in an attempt to verify the chromosomal location of the Colton blood group locus (CO). Two-point linkage analysis of CO and 46 other polymorphic loci excludes CO from 1p36 to 1q23, 3q21 to 3q26, 4q13 to 4q28, 6p24 to 6 cen, and 19p13.2 to 19 cen and from linkage groups bounded by ABO and ORM, PI and IGHG, and HP and GOT2. The dwindling odds of linkage between CO:JK are reinforced (z = -5.28 at theta = 0.20). Close linkage of CO with ACP1 and D2S5 could not be demonstrated. The proposed chromosome 2 location of CO is therefore questioned.
Data are presented on 30 high and low incidence antigens and on the distribution of the alleles of 14 blood group systems in a random sample of Newfoundlanders. The distribution of alleles in Newfoundland was compared to founder populations where possible and to the Canadian Caucasian population in general; no significant differences were found. Six rare alleles were observed (IN*a, NFLD, TAR, RH*x, RH*w, RH*V) in a population of 234 individuals. A high incidence of rare alleles has been reported in other isolate populations.