Assignment of phosphoglycerate mutase (PGAMA) to human chromosome 10. Regional mapping of GOT1 and PGAMA to subbands 10q26.1 (or q25.3).

Human phosphoglycerate mutase (PGAM, EC 2.7.5.

Prenatal diagnosis of congenital enzymopenic methaemoglobinaemia with mental retardation due to generalized cytochrome b5 reductase deficiency: first report of two cases.

Prenatal diagnosis of congential enzymopenic methaemoglobinaemia (CEM) with mental retardation was performed in two fetuses at risk for generalized NADH-cytochrome b5 reductase deficiency. In the first case the enzyme activity of cultured amniotic cells was in the heterozygous to normal range. The mother delivered a normal baby with normal enzyme activity in cord blood cells.

Retinoblastoma-del(13q14): report of two patients, one with a trisomic sib due to maternal insertion. Gene-dosage effect for esterase D.

Two cases of del(13)-retinoblastoma are reported. Case 1, a 13-month-old male, was monosomic due to the malsegregation of the maternal ins(20;13)(p12;q1307q14.3).

[Prenatal diagnosis of generalized cytochrome b5 reductase deficiency (congenital methemoglobinemia with mental retardation, type II) (author's transl)].

Two first cases of prenatal diagnosis of generalized cytochrome b5 reductase deficiency are presented. In each family, there was an index case with a clinical pattern of congenital methemoglobinemia associated with severe mental retardation (type II). The foetal cells were obtained by amniocentesis at 16 weeks of pregnancy at risk.

Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

A new born male and a three-year-old female with various dysmorphic features were both found to have to have a supernumerary chromosome. Clinical and cytogenetic findings confirmed the existence of a pure de novo 9p tetrasomy in the first case and a pure de novo 9p trisomy in the second case. Gene dosage effects were demonstrated for galactose-1-phosphate uridyltransferase GALT (EC 2.

Confirmation of the regional assignment of peptidase A (PEPA) to 18q23 by gene dosage studies.

Peptidase A (PepA) activity was measured in five patients with trisomy or monosomy of the distal portion of 18q. The ratio propositus/mean parent (sum of the values of the father and mother divided by two) showed a gene dosage effect, confirming the localization of the gene in 18q23.

[Increase of LDH A and partial trisomy 11p (author's transl)].

An increase of LDH A activity is observed in an adolescent patient trisomic for 11p with the exception of band 11p13. The clinical syndrome is delineated: broad faces, abundant eyebrows in their internal portion, enophtalmia, hypoplasic nasal bridge, hypertelorism, epicanthus, cleft palate or lip, macroglossia, hypotrophic muscles, soft and abundant skin, mental retardation.

PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.

Gene dosage studies yielded results consistent with the assignment of the locus for pyruvate kinase (PK3) to chromosome 15. The activity of seven cytoplasmic enzymes has been determined in fibroblast extracts from six trisomy 15 lines and 16 normal control lines. The fibroblast extracts from the trisomic patients had pyruvate kinase activity 57% higher than fibroblast extracts from control lines, while other enzyme activities were within the normal range of activity.

[Sesquialter dosage effect of erythrocytic and leucocytic nucleoside phosphorylase in two patients with proximal trisomy 14q (author's transl)].

Nucleoside phosphorylase activity was assayed in two previously reported patients with trisomy for the proximal portion of 14q. A sesquialter dosage effect was demonstrated in erythrocytes as well as in leucocytes. These results are in favor of an ubiquitous expression of the gene and confirm its assignment to 14q13.

Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex.

A gene dosage effect for catalase (CAT) was investigated in three individuals : one with 11p13 deletion, aniridia, ambiguous genitalla, and gonadoblastoma ; one trisomic for 11p with the exception of 11p13; and one trisomic for 11p13. Results were compatible with the assignment of CAT to 11p13 and its linkage with the aniridia-gonadoblastoma or Wilms' tumor complex (WAGR).

Triplex gene dosage effect of TPI and G3PD in a human lymphoblastoid cell line with partial trisomy 12p13 and 18p.

The EBV-induced lymphoblastoid line established from a patient carrying a duplication of the distal part of chromosome 12 short arm (12p13) retained the original partial trisomy and displayed the same triplex gene dosage effect for TPI and G3PD as found in the patient's RBC and WBC.

Regional assignment of red cell acid phosphatase locus to band 2p25.

Cytogenetic and enzyme studies of a child trisomic for 6p and monosomic for band 2p25 are reported. A tentative assignment of the ACP1 gene locus to band 2p25 is suggested by a 50% decrease in red cell acid phosphatase activity.

[46,XX/46,XX,del (10) (p13)/47,XX,+r/47,XX,del (10) (p13), + r mosaicism and partial trisomy 10p phenotype (author's transl)].

The mosaicism 46,XX/46,XX,del(10)(p13)/47,XX, +r/47,XX,del(10)(p13), +r was found in the lymphocytes and the fibroblasts of a patient with the following : profound mental retardation; craniofacial dysmorphism with frontal bossing, fine eyebrows, a large hypoplastic nasal bridge, prognathism of the upper jaw, thick lips; a long and thin neck; congenital heart disease; skeletal malformations, with club feet; and hypotonia and lax ligaments. These malformations, compatible with the trisomy 10p syndrome, suggest that the supernumerary ring chromosome was composed of 10p material. An increase of HK1 and GOT1 activities was found.

Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p.

An 8-year-old girl with profound mental retardation and a neurologic syndrome associated with morphologic abnormalities was found to have a supernumerary small submetacentric chromosome. Several members of her family carried a balanced translocation t(12;18)(p12;q11), and the child's karyotype could be explained by 3:1 maternal segregation (tertiary trisomy). The proband was trisomic for 12p13 and 18p.

Assignment of NADH-cytochrome b5 reductase (DIA1 locus) to human chromosome 22.

NADH-cytochrome b5 reductase (DIA1, EC. 1.6.

[Assessment of the myocardial infarct size and kinetic study of the necrosis process by serial determinations of creatine kinase].

Assessment of the size of a myocardial infarct is important from a prognostic point of view, given the opportunities for surgical and pharmacological limitation of the process of necrosis. Serial doses of creatine kinase and its isoenzyme MB given every 4 hours for the first 48 hours of the infarct have allowed us to estimate the size of the infarct and to study the kinetics of enzyme liberation during necrosis. Unknown factors limit the sensitivity of this means of assessing the size of an infarct.

[Gene dosage and chromosome enzymatic markers].

Data are tabulated on the number of nomenclature current abbreviations, the occurence of multiple gene loci and corresponding polypeptide chains, and chromosomal assignment of 114 enzymes. Gene dose effect measurement is dependent upon several properties of the enzyme which are also listed: tissue and subcellular distribution, subunit number, interloci hybrids, genetic polymorphism, qualitative and quantitative methods of detection. The possibilities and limits of the concept of a gene-dose relationship, for the detection of carriers of chromosomal aberrations, and also for chromosomal assignment are discussed.

Heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Algeria. Study in Northern Algeria with description of five new variants.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency was found in 3.2% of the male population living in the urban area of Algiers. The deficient subjects originated from multiple geographic regions of Northern Algeria, with prevalence of individuals of Berber-Kabyle origin.

[Generalized saturnine paralysis. Discovery of a double congenital disease: glucose-6-phosphate dehydrogenase deficiency (new variant) and distal tubular acidosis].

A case of severe lead poisoning with haemolytic anemia, extensive polyneuropathy and arterial hypertension is reported in a patient for whom G-6-P-D deficiency and renal tubular acidosis were discovered. Both traits were present in his family. Incomplete regression of paralysis and persistant biological abnormalities after chelating treatment were demonstrative of heavy saturnine load even though the toxic exposure was brief.

12pter to 12p12.2: possible assignment of human triose phosphate isomerase.

Red cell triose-phosphate isomerase (TPI) was determined, together with other enzymes, in three patients with chromosome 12 abnormalities. In patient No. 1 (trisomy of the segment 12 pter leads to 12q 12) and in patient No.