De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

Alessandra Renieri; Marco Seri; Jeanne C. Myers; Taina Pihlajaniemi; Laura Massella; Gianfranco Rizzoni; Mario De Marchi

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

Alessandra Renieri, Marco Seri, Jeanne C. Myers, Taina Pihlajaniemi, Laura Massella, Gianfranco Rizzoni, Mario De Marchi

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G→A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the α5(IV) chain.

Original language	English
Pages (from-to)	127-129
Number of pages	3
Journal	Human Molecular Genetics
Volume	1
Issue number	2
Publication status	Published - May 1992

ASJC Scopus subject areas

Genetics
Statistics, Probability and Uncertainty
Applied Mathematics
Public Health, Environmental and Occupational Health
Molecular Biology
Genetics(clinical)

Cite this

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title = "De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome",

abstract = "Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G→A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the α5(IV) chain.",

author = "Alessandra Renieri and Marco Seri and Myers, {Jeanne C.} and Taina Pihlajaniemi and Laura Massella and Gianfranco Rizzoni and {De Marchi}, Mario",

year = "1992",

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language = "English",

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T1 - De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

AU - Renieri, Alessandra

AU - Seri, Marco

AU - Myers, Jeanne C.

AU - Pihlajaniemi, Taina

AU - Massella, Laura

AU - Rizzoni, Gianfranco

AU - De Marchi, Mario

PY - 1992/5

Y1 - 1992/5

N2 - Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G→A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the α5(IV) chain.

AB - Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G→A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the α5(IV) chain.

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AN - SCOPUS:0026864472

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JO - Human Molecular Genetics

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SN - 0964-6906

IS - 2

ER -

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

Abstract

ASJC Scopus subject areas

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