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Dinucleotide repeat polymorphism in the human surfactant-associated protein 3 gene (SFTP3)

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S Todd
S Todd
S Todd
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Susan L Naylor at University of Texas Health Science Center at San Antonio
Susan L Naylor
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3756
Nucleic
Acids
Research,
Vol.
19,
No.
13
Dinucleotide
repeat
polymorphism
in
the
human
interleukin
1,
alpha
gene
(ILlA)
S.Todd
and
S.L.Naylor
Department
of
Cellular
and
Structural
Biology,
The
University
of
Texas
Health
Science
Center
at
San
Antonio,
7703
Floyd
Curl
Drive,
San
Antonio,
TX
78284,
USA
Source/Description:
An
(AC)n
repeat
sequence
is
located
at
position
7,695
of
the
human
interleukin
1
alpha
(ILIA)
gene
on
chromosome
2qI2-q21
(1).
PCR
primers
have
been
designed
(IL1AAC1
5'GCCTAGTGAGTGTGGAAGACATTG3
',
IL1AAC2
5
'CAGCACTGGTTGGTCTTCATCTTG3')
to
amplify
a
334
bp
region
containing
the
polymorphic
repeat.
Frequency:
Twenty
unrelated
individuals
demonstrated
six
alleles.
The
observed
heterozygosity
was
74%.
Allele
Frequency
DI
0.44
D2
0.21
D3
0.03
D4
D5
D6
0.08
0.16
0.08
Chromosomal
Localization:
The
human
interleukin
1
alpha
(ILIA)
gene
has
been
localized
to
chromosome
2ql2-q21
(2,
3).
Mendelian
Inheritance:
Co-dominant
segregation
was
observed
in
three
three-generation
families.
Other
Comments:
The
PCR
reactions
were
performed
on
200
ng
genomic
DNA
with
10
ng
32P-labeled
IL1AAC
1
primer
and
10
ng
unlabeled
IL1AAC2
primer.
These
reactions
were
carried
out
as
described
previously
(4).
The
amplified
products
were
run
on
a
5
%
polyacrylamide,
32%
formamide
sequencing
gel
at
80
watts
constant
power
for
approximately
4
hours
in
1
x
TBE
buffer.
References:
1)
Furutani,Y.
et
al.
(1986)
Nucl.
Acids
Res.
14,
3167-3179.
2)
Modi,W.S.
et
al.
(1988)
Genomics
2,
310-314.
3)
Lafage,M.
et
al.
(1989)
Blood
73,
104-107.
4)
Theune,S.
et
al.
(1991)
Genomics
9,
511-516.
Dinucleotide
repeat
polymorphism
in
the
human
surfactant-associated
protein
3
gene
(SFTP3)
S.Todd
and
S.L.Naylor
Department
of
Cellular
and
Structural
Biology,
The
University
of
Texas
Health
Science
Center
at
San
Antonio,
7703
Floyd
Curl
Drive,
San
Antonio,
TX
78284,
USA
Source/Description:
Two
(AC),,
repeat
sequences
are
located
at
positions
2,988
and
3,050
of
the
human
surfactant-associated
protein
3
gene
on
chromosome
2
(1).
PCR
primers
have been
designed
(SFTP3AC
1
5'CAGCACCCTATCCAGACACATA-
CA3',
SFTP3AC2
5'TGTGTGTGAGAGTGAGGGTGTAA-
G3')
to
amplify
a
321
bp
region
containing
the
polymorphic
repeats.
Frequency:
Twenty
unrelated
individuals
demonstrated
five
alleles.
The
observed
heterozygosity
was
50%.
Allele
Frequency
Bi
0.36
B2
0.30
B3
B4
B5
0.28
0.03
0.03
Chromosomal
Localization:
The
human
surfactant-associated
protein
3
(SFTP3)
gene
has
been
localized
to
chromosome
2
(2).
Mendelian
Inheritance:
Co-dominant
segregation
was
observed
in
three
three-generation
families.
Other
Comments:
The
PCR
reactions
were
performed
on
200
ng
genomic
DNA
with
10
ng
32P-labeled
SFTP3AC
1
primer
and
10
ng
unlabeled
SFTP3AC2
primer.
These
reactions
were
carried
out
as
described
previously
(3).
The
amplified
products
were
run
on
a
5
%
polyacrylamide,
32
%
formamide
sequencing
gel
at
80
watts
constant
power
for
approximately
4
hours
in
1
x
TBE
buffer.
References:
1)
Pilot-Matias,T.J.
et
al.
(1989)
DNA
8,
75-86.
2)
Emrie,P.A.
et
al.
(1988)
Somat.
Cell
Mol.
Genet.
14,
105-110.
3)
Theune,S.
et
al.
(1991)
Genomics
9,
511-516.
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Article
  • Jun 1993
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Article
  • Jan 1996
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PCR primers for human chromosomes: Reagents for the rapid analysis of somatic cell hybrids
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Structure and Organization of the Gene Encoding Human Pulmonary Surfactant Proteolipid SP-B
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Human pulmonary surfactant proteolipid SP-B arises by proteolytic processing of a 42,000-dalton precursor. The active proteolipid SP-B is one of two small hydrophobic proteins identified in surfactant that impart surface-active properties to surfactant phospholipids. We report the isolation and characterization of complete SP-B cDNA from a human lung cDNA library. The cDNA was used to isolate the gene encoding the SP-B precursor from a lambda EMBL3 library of human embryonic kidney DNA. The entire SP-B gene was sequenced and is approximately 9.5 kb long, with 11 exons and 10 introns including a large 823-nucleotide 3' untranslated exon. The sequence derived from the exons differs from the cDNA sequence at 3 positions out of 2001, only one of which is in the translated region. Direct RNA sequencing indicated that the 5' untranslated region is only 14 nucleotides long. A number of putative regulatory elements were found upstream of the SP-B gene, including a GC box and several putative cAMP and glucocorticoid receptor binding sites. Several Alu repeats and a region of potential Z-DNA formation were found in the introns. Southern blotting of human genomic DNA probed with SP-B cDNA indicated the presence of only one SP-B gene in the human genome, and the gene was localized to chromosome 2.
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