[Blood group antigens and ABH secretor status in dystrophia myotonica (Curschmann-Steinert)]. 1986

U Mielke, and L Gramer, and K Schimrigk

The linkage between the dominantly inherited Dystrophia myotonica and ABH-Secretor locus is well known. It has been used as a genetic marker for the early detection of heterozygous patients. Genetic counselling, however, requires exact knowledge of the gene combination. 25 persons from a special ambulance, patients and their advice seeking relatives, were examined for ABH, Lewis, Kidd, and Lutheran blood groups. Secretor test was performed from saliva. In 42% of the patients the combination of Dystrophia myotonica to the (Se) or (se) allele could not be exactly determined, nor in any of their relatives because the number of family members available for analysis was insufficient. Therefore this genetic marker is considered to be of limited practical importance for genetic counselling despite of its high theoretical value. The occurrence of lewis-b-antigen in the saliva of 3 nonsecretor patients cannot be explained yet.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007983 Lewis Blood Group Antigens Carbohydrate antigens structurally related to the ABH BLOOD-GROUP SYSTEM. They may occur as a modification of saccharide chains on glycolipids or glycoproteins on cell surfaces or in plasma, or as free oligosaccharides in secretions. Lewis antigens are not synthesized in blood cells. Instead Lewis glycolipids present in plasma are absorbed onto the surface of ERYTHROCYTES; LYMPHOCYTES; and PLATELETS. The phenotypes Le(a) and Le(b) are the result of the actions of two genes the Le gene (fucosyltransferase FUT3) and the Se gene (fucosyltransferase FUT2) on the precursor carbohydrate, glycolipid or glycoprotein. Other FUCOSYLTRANSFERASES can also synthesize the Lewis antigens. Blood Group Lewis Related Antigens,Lewis Antigen Related Tumor-Associated Antigens,Lewis Antigens,Lewis Blood Group Related Antigens,Lewis Blood Group Related Tumor-Associated Antigens,Lewis Blood-Group System,Lewis Related Antigens,Lewis System,Sialyl Lewis Antigens,Le Antigens,Le(a) Blood Group System,Antigens, Lewis,Antigens, Lewis Related,Antigens, Sialyl Lewis,Blood-Group System, Lewis,Lewis Antigen Related Tumor Associated Antigens,Lewis Blood Group Related Tumor Associated Antigens,Lewis Blood Group System
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009223 Myotonic Dystrophy Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. Dystrophia Myotonica,Myotonic Dystrophy, Congenital,Myotonic Myopathy, Proximal,Steinert Disease,Congenital Myotonic Dystrophy,Dystrophia Myotonica 1,Dystrophia Myotonica 2,Myotonia Atrophica,Myotonia Dystrophica,Myotonic Dystrophy 1,Myotonic Dystrophy 2,PROMM (Proximal Myotonic Myopathy),Proximal Myotonic Myopathy,Ricker Syndrome,Steinert Myotonic Dystrophy,Steinert's Disease,Atrophica, Myotonia,Atrophicas, Myotonia,Congenital Myotonic Dystrophies,Disease, Steinert,Disease, Steinert's,Dystrophia Myotonica 2s,Dystrophia Myotonicas,Dystrophica, Myotonia,Dystrophicas, Myotonia,Dystrophies, Congenital Myotonic,Dystrophies, Myotonic,Dystrophy, Congenital Myotonic,Dystrophy, Myotonic,Dystrophy, Steinert Myotonic,Myopathies, Proximal Myotonic,Myopathy, Proximal Myotonic,Myotonia Atrophicas,Myotonia Dystrophicas,Myotonic Dystrophies,Myotonic Dystrophies, Congenital,Myotonic Dystrophy, Steinert,Myotonic Myopathies, Proximal,Myotonica, Dystrophia,Myotonicas, Dystrophia,PROMMs (Proximal Myotonic Myopathy),Proximal Myotonic Myopathies,Steinerts Disease,Syndrome, Ricker
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D005260 Female Females
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier

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