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M L Guizzo

Publications and source records attributed to M L Guizzo.

11 recordsLinked to original sources
PubMed1991

Typing of MNSs blood group specific sequences in the human genome and characterization of a restriction fragment tightly linked to S-s- alleles.

Human erythrocyte membrane alpha and delta glycophorins (glycophorins A and B) carry the antigens for the M,N,S,s blood group system. Synthetic oligonucleotides spanning coding regions for M,N,S, and s epitopes were used to examine DNAs from 50 individuals selected at random and from individuals known to exhibit S(-)s(-)U- or S(-)s(-)U+ blood group phenotypes. We showed that M,N,S,s, blood group-specific sequences occur as multicopies in the human genome and reside within the alpha and delta glycophorin genes and also within the third glycophorin gene (glycophorin E gene). DNA typing with M- and N-epitope-specific probes showed distinct patterns that allowed correlation of the genotypes with the blood group phenotypes. The correlation using S- and s-specific probes was less definite owing to cross-hybridization. An Mspl restriction fragment length polymorphism (RFLP) residing in the E gene was detected in the black population. This RFLP is also carried by all individuals tested who exhibit the S(-)s(-)U- and S(-)s(-)U+ blood groups phenotypes, thereby serving as a useful marker for the S-s- alleles. The site of cleavage resulting in this RFLP was localized to the second intron of the E gene, and cleavage could occur through differential methylation of its two alleles.

Alleles↗
PubMed1989

Molecular genetic analysis of a hybrid gene encoding Sta glycophorin of the human erythrocyte membrane.

Sta is an antigen of the human MNSs blood group system carried by a variant glycophorin residing in the erythrocyte membrane. We examined the structure, organization, and inheritance of Sta gene identified in genomic DNA from an Oriental family. Southern blotting detected a useful genetic marker tightly linked to the Sta gene. Differential hybridization and secondary restriction analyses showed that Sta gene is a fusion hybrid of delta and alpha glycophorin genes. Genomic mapping by extensive use of synthetic oligonucleotides, with overlapping sequence specificity, allowed us to define the delta-alpha junction site and disclose the organization of the variant gene. The junction point of Sta hybrid gene is encompassed by an unexpressed exonlike sequence of the delta gene at the 5' site, and an expressed sequence of the alpha gene spanning codons 59 through 71, at the 3' site. Dosage quantification demonstrated the occurrence of Sta gene as a single copy in the genome. Blood group inheritance, evaluated by DNA typing, established the tight linkage of Sta to the alpha M and delta S genes. The data support a single unequal crossing-over event between misaligned delta and alpha genes on the homologous chromosomes as the mechanism for the origin of Sta gene. The Sta gene is similar in overall structure to another delta-alpha hybrid gene, Dantu, but differs from it in junction structure, copy number, gene linkage, and antigen specificity.

Amino Acid Sequence↗
PubMed1989

Resolution of discrepant typings observed in paternity testing.

Discrepant results in phenotyping the red blood cells (RBCs) of a child and his alleged parents were attributable to a contaminating antibody, anti-Bgb (HLA B-17), in typing reagents (anti-C and -Cw). This case demonstrates the necessity for using reagents from at least two sources for paternity testing.

Journal Article↗
PubMed1988

A family study of multiple mutations of alpha and delta glycophorins (glycophorins A and B).

Glycophorins alpha and delta are the carriers of the antigens of the MNSs blood system; this report documents the presence of three glycophorin mutations in two individuals of a 16 member family. Erythrocytes were examined by serology, sodium dodecyl sulfate electrophoresis, and immunoblotting. The inheritance pattern and immunoblot profile revealed: (1) A variant Dantu glycophorin showed properties consistent with a delta-alpha glycophorin hybrid structure, previously noted in other individuals. The gene responsible for the Dantu glycophorin in this family is linked to a gene coding for an M-specific alpha glycophorin. (2) Another variant glycophorin, Mi-III glycophorin, was first revealed by immunoblotting and subsequently confirmed by erythrocyte antigen typing. This autosomal dominant trait is associated with N blood group activity and the inheritance pattern indicates that it could be a variant of delta glycophorin. (3) In the individuals with both Dantu and Mi-III glycophorins a delta glycophorin deficiency was observed suggesting that a deletion or alteration of delta gene may exist cis to the Dantu gene. Our findings that document clustering of multiple mutations in MNSs gene loci in the propositus family are very unusual as such variants are relatively rare.

Female↗
PubMed1987

The Dantu erythrocyte phenotype of the NE variety. II. Serology, immunochemistry, genetics, and frequency.

Red cells (RBC) possessing the low-frequency MNSs antigen Dantu from 36 Black individuals (21 propositi) were found to exhibit the NE variety of this phenotype, as judged from the electrophoretic glycophorin (GP) pattern, described in an accompanying article, and/or from the polybrene test which detects the decreased NeuAc level of these RBC. All known DantuNE RBC (53) exhibit the phenotype M+N+. This finding as well as family studies and immunochemical investigations demonstrate that the DantuNE allele encodes a blood group M-specific GP A. Thus, the strongly decreased GP A level of RBC from DantuNE heterozygotes represents the product of the Dantu allele and its normal counterpart. It is suggested that the formation of a complex with the anion channel protein (band 3) represents the prerequisite for optimum incorporation of GP A into normal RBC membranes. The hybrid GP in DantuNE RBC, produced in large quantity, might suppress the incorporation of GP A in a cis and trans manner via the formation of a complex with band 3. The hybrid GP in DantuNE RBC lacks U activity, but expresses N activity and a qualitatively altered s antigen, thus proving its GP B-GP A hybrid nature in conjunction with data described in the accompanying article. Screening of ficin-treated RBC with Vicia lectin revealed that the Dantu phenotype exhibits a frequency of about 0.005 in American Blacks and less than 0.001 in Germans.

Adult↗