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Literature DB >> 7358390

Atypical segregation of esterase D: evidence of a rare "silent" allele EsD0.

Abstract

Electrophoretic study of esterase D in 1027 mother-child pairs showed an atypical segregation of EsD alleles in one pair. The family analysis confirmed the evidence of a 'silent' gene (EsD0), which was observed in child, mother and grandfather. R banding of the metaphasal chromosomes revealed the normal appearance of the No. 13 pair, and no deletion of homologues No. 13 was observed in this family.

Entities: Gene Species

Mesh：

Substances：
Esterases

Year: 1980 PMID： 7358390 DOI： 10.1007/bf00273500

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

8 in total

1. Assignment of the genes for human glyoxalase I to chromosome 6 and for human esterase D to chromosome 13.

Authors: K Bender; K H Grzeschik
Journal: Cytogenet Cell Genet Date: 1976

2. Evidence for a null allele at the esterase D (EC 3.1.1.1) locus.

Authors: R S Sparkes; S Targum; E Gershon; G F Sensabaugh; M C Sparkes; M Crist
Journal: Hum Genet Date: 1979-02-15 Impact factor: 4.132

3. [Esterase D polymorphism: demonstration by high-voltage, starch-gel electrophoresis and presentation of allele frequencies (author's transl)].

Authors: K Bender; R Frank
Journal: Humangenetik Date: 1974

4. [A new technic of analysis of the human karyotype].

Authors: B Dutrillaux; J Lejeune
Journal: C R Acad Hebd Seances Acad Sci D Date: 1971-05-17

5. Esterase D: a new human polymorphism.

Authors: D A Hopkinson; M A Mestriner; J Cortner; H Harris
Journal: Ann Hum Genet Date: 1973-10 Impact factor: 1.670

6. The red-cell glutamic-pyruvate transaminase, carbonic anhydrase I and II and esterase D polymorphisms in the Ambo populations of South West Africa, with evidence for the existence of an EsDo allele.

Authors: M P Marks; T Jenkins; G T Nurse
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

7. Esterase D polymorphism: description of the "new" allele EsD4.

Authors: K Berg; F Schwarzfischer; H Wischerath
Journal: Hum Genet Date: 1976-04-15 Impact factor: 4.132

8. [Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34].

Authors: C Turleau; J Séger; J de Grouchy; F Doré; J C Job
Journal: Ann Genet Date: 1978-09

8 in total

7 in total

7. A sialic acid-specific O-acetylesterase in human erythrocytes: possible identity with esterase D, the genetic marker of retinoblastomas and Wilson disease.

Authors: A Varki; E Muchmore; S Diaz
Journal: Proc Natl Acad Sci U S A Date: 1986-02 Impact factor: 11.205

7 in total

Atypical segregation of esterase D: evidence of a rare "silent" allele EsD0.

1. Assignment of the genes for human glyoxalase I to chromosome 6 and for human esterase D to chromosome 13.

2. Evidence for a null allele at the esterase D (EC 3.1.1.1) locus.

3. [Esterase D polymorphism: demonstration by high-voltage, starch-gel electrophoresis and presentation of allele frequencies (author's transl)].

4. [A new technic of analysis of the human karyotype].

5. Esterase D: a new human polymorphism.

6. The red-cell glutamic-pyruvate transaminase, carbonic anhydrase I and II and esterase D polymorphisms in the Ambo populations of South West Africa, with evidence for the existence of an EsDo allele.

7. Esterase D polymorphism: description of the "new" allele EsD4.

8. [Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34].

1. Molecular analysis of esterase D polymorphism.

2. [A new allele of AK-Polymorphism: AK0 (author's transl)].

3. Evidence for a "new" allele at the esterase D (E.C. 3.1.1.1.) locus.

4. The ESD polymorphism: further studies of the ESD2 and ESD5 allele products.

5. Frequency of the ESD*5 allele in three ethnic groups in Minnesota.

6. EsD*5 gene frequency in Tuscany (Italy).

7. A sialic acid-specific O-acetylesterase in human erythrocytes: possible identity with esterase D, the genetic marker of retinoblastomas and Wilson disease.