PMID- 10561141
OWN - NLM
STAT- MEDLINE
DCOM- 19991130
LR  - 20101118
IS  - 0272-6386 (Print)
IS  - 0272-6386 (Linking)
VI  - 34
IP  - 5
DP  - 1999 Nov
TI  - Detection of mutations in the COL4A5 gene in over 90% of male patients with
      X-linked Alport's syndrome by RT-PCR and direct sequencing.
PG  - 854-62
AB  - X-linked Alport's syndrome is caused by mutations in the COL4A5 gene encoding the
      type IV collagen alpha5 chain (alpha5[IV]). Polymerase chain reaction-single-str 
      and conformation polymorphism (PCR-SSCP) on genomic DNA has previously been used 
      to screen for mutations in the COL4A5 gene, but this method was relatively
      insensitive, with mutations detected in less than 50% of patients. Here, we
      report a systematic analysis of the entire coding region of the COL4A5 gene,
      using nested reverse-transcription-polymerase chain reaction (RT-PCR) and the
      direct sequence method using leukocytes. This study examines twenty-two unrelated
      Japanese patients with X-linked Alport's syndrome showing abnormal expression of 
      alpha5(IV) in the glomerular or epidermal basement membranes. Mutations that were
      predicted to be pathogenic were identified in 12 of the 13 male patients (92%)
      and five of the nine female patients (56%). Six patients had missense mutations, 
      four had out-of-frame deletion mutations, three had nonsense mutations, and three
      had mutations causing exon loss of the transcript. The current study shows that
      nested RT-PCR and the direct sequence method using leukocytes are highly
      sensitive and offer a useful approach for systematic gene analysis in patients
      with X-linked Alport's syndrome.
FAU - Inoue, Y
AU  - Inoue Y
AD  - Department of Pediatrics, Faculty of Health Science, Kobe University School of
      Medicine, Kobe, Japan.
FAU - Nishio, H
AU  - Nishio H
FAU - Shirakawa, T
AU  - Shirakawa T
FAU - Nakanishi, K
AU  - Nakanishi K
FAU - Nakamura, H
AU  - Nakamura H
FAU - Sumino, K
AU  - Sumino K
FAU - Nishiyama, K
AU  - Nishiyama K
FAU - Iijima, K
AU  - Iijima K
FAU - Yoshikawa, N
AU  - Yoshikawa N
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Kidney Dis
JT  - American journal of kidney diseases : the official journal of the National Kidney
      Foundation
JID - 8110075
RN  - 0 (DNA Primers)
RN  - 0 (Peptide Fragments)
RN  - 9007-34-5 (Collagen)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Base Sequence
MH  - Child
MH  - Child, Preschool
MH  - Collagen/*genetics
MH  - *DNA Mutational Analysis
MH  - DNA Primers/genetics
MH  - Female
MH  - Gene Amplification
MH  - Genetic Linkage/*genetics
MH  - Humans
MH  - Male
MH  - Nephritis, Hereditary/diagnosis/*genetics
MH  - Peptide Fragments/*genetics
MH  - *Reverse Transcriptase Polymerase Chain Reaction
MH  - Sex Chromosome Aberrations/*genetics
MH  - *X Chromosome
EDAT- 1999/11/16 00:00
MHDA- 1999/11/16 00:01
CRDT- 1999/11/16 00:00
PHST- 1999/11/16 00:00 [pubmed]
PHST- 1999/11/16 00:01 [medline]
PHST- 1999/11/16 00:00 [entrez]
AID - S0272-6386(99)70042-9 [pii]
AID - 10.1016/S0272-6386(99)70042-9 [doi]
PST - ppublish
SO  - Am J Kidney Dis. 1999 Nov;34(5):854-62. doi: 10.1016/S0272-6386(99)70042-9.