S. Philipps

Genetic linkage between the Kell blood group system and prolactin-inducible protein loci: provisional assignment of KEL to chromosome 7

The Kell blood group locus (KEL) is tightly linked to the prolactin‐inducible protein locus (PIP) with ẑ=9.12 at ô= 0.00 for combined paternal and maternal meioses. In view of the regional localization of PIP to 7q32‐q36 (Myal et al. 1989a), a similar assignment for KEL is favoured.

Infantile hypophosphatasia—Linkage with the RH locus

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.

Localization of a locus for Charcot-Marie-Tooth neuropathy type la (CMT1A) to chromosome 17

Phenotypic data for 71 genetic markers for members of five Caucasian kindreds were tested for linkage with the autosomal dominant mutations causing Charcot-Marie-Tooth (hereditary motor sensory) neuropathy type I, characterized by markedly reduced nerve conduction velocities. Lod score analysis gave no evidence of linkage to the closely linked chromosome 1 loci SPTA1-FY-F5-AT3 and APOA2. In contrast, these mutations were found to map closely (zeta = 10.828, theta = 0.0) to D17S58, an anonymous segment of DNA from 17p11.2-p11.1, and thus define the CMT1A locus. Segregation information data for an inferred recombinant offspring indicated that the CMT1A locus is probably proximal to MYH2, the locus encoding adult skeletal muscle myosin heavy polypeptide 2, which maps to 17p13. Analysis of the lod scores on a per kindred basis gave no evidence of genetic heterogeneity.

Assignment of the YT blood group locus to chromosome 7q

The antithetical antigens YT1 and YT2 constitute the YT blood group system (International Society of Blood Transfusion system number 11). Despite being serologically well defined, the YT blood group locus (YT) has not secured a chromosomal location. In our report, peak lods of 3.61 at theta = 0.00 for YT:COL1A2 and of 3.31 at theta = 0.00 for YT:D7S13 allow us to assign YT to the long arm of chromosome 7.

Linkage between the Colton blood group locus and ASSP11 on chromosome 7

In an attempt to assign the Colton blood group locus (CO) we have successfully revisited chromosome 7. CO is linked to the argininosuccinate synthetase pseudogene 11 locus (ASSP11) with z = 5.79 at theta = 0.07 for combined paternal and maternal meioses. We propose a 7p position for CO.

The position of the Radin blood group locus in relation to other chromosome 1 loci

Data are presented which indicate that the Radin blood group antigen is governed by a locus, for the present called Rd, which is located between PGM1 and αFUC Rh, and is either very closely linked to or identical with Sc.

The chromosome 19 linkage group LDLR, C3, LW, APOC2, LU, SE in man

The data establish linkage in both sexes for LDLR:LW (ž= 8.43 at θ= 0.00) and in the male for LDLR:LU (ž= 3.31 at θ= 0.00) and for LW:APOC2 (ž= 3.90 at θ= 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.

Some Blood Group Frequencies in a Caucasian Population

The data here recorded have been gathered over the past year or so; they are the results of tests on unrelated “normal” adult Caucasian Manitobans. There has been no selection which might be expected to alter distribution. The Lutheran, Kell and Kidd systems. For the Lutheran system all samples were tested with anti-Lua (Scrog/8) and anti-Lub (Sav/8) by the saline capillary method. The serum Scrog contains an antibody of the Bennett-Goodspeed family (RACE and SANGER [4]). Th‘ is was eliminated by absorbing Scrog on known Lu(a +) Bennett-Goodspeed-negative cells and then eluting. The eluate was used to check all Scrog-positive samples. The single example of Lu(b-) was checked by the indirect Coombs method. We do not know of any other large series tested with both anti-Lua and anti-Lub. The data in Table 1 agree with expectation while the calculated gene and genotype frequencies do not differ significantly from those calculated by RACE and SANGER [4] based on tests with anti-Lu*. For the Kell system all samples were tested with anti-K (Nash), anti-k (D/16), anti-Kpa (McM) and anti-Kpb (Raut/4) by the papain capillary method. Anti-Kpb (Raut) contains a weak anti-K but in the 1 : 4 dilution in which it was used it does not react more weakly with K + than with Kcells. Some, but not all, of the K + samples were checked with anti-Kpb (Brat) by the indirect Coombs method: antiKpb (Brat) is thought not to contain anti-K. The data in Table I agree with expectation while the gene and genotype frequencies are in close agreement with those calculated by ALLEN, LEWIS and FUDENBERG [l]. For the Kidd system the indirect Coombs capillary method was used, each sample being tested with anti-Jkb (Kni/8) and one of two

Assignment of the Waldner blood group locus (WD) to 17q12–q21

The Waldner blood group antigen (WD1) was first recognized as a distinct erythrocyte surface structure in 1978. Occurring infrequently (incidence <1/1000) in random Caucasian blood samples, WD1 was assigned to the low-incidence (700) series by the International Society of Blood Transfusion (ISBT) working party on terminology for red cell surface antigens. To date, WD1 has been identified in Hutterites from Manitoba, in Khoisans from South Africa, and in a family from Holland. Despite the isolated occurrence of WD1 in different populations, we are fortunate to have the only documented sizeable collection of families segregating for WD. In this article, we report the results of genetic linkage analyses that demonstrate that WD is somewhat loosely linked to the reference marker D17S41 at 17q12-q24 and closely linked to the anion exchange protein 1 locus (AE1) at 17q12-21. 13 refs., 1 fig., 1 tab.

Evidence for Genetic Linkage between the KEL and YT Blood Group Loci

Abstract. Peak lods (Ẑ) of 3.48 at an estimated recombination fraction 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 Ẑ to 4.24 at = 0.26.