ABCC7 p.Met469Ile
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PMID: 15905293
[PubMed]
Wu CC et al: "Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens."
No.
Sentence
Comment
44
(TG)12 7T/(TG)12 7T M/M N BHy 6 Neg 11 58 M469I/?
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ABCC7 p.Met469Ile 15905293:44:42
status: NEW6 RESULTS: Five mutations, p.V201M, p.N287K, c.-8G > C (125G > C), p.M469I and p.S895N, were found in five of the patients.
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ABCC7 p.Met469Ile 15905293:6:67
status: NEW7 p.N287K occurred in the first transmembrane-spanning domain, p.M469I in the first ATP-binding domain and p.S895N in the second transmembrane-spanning domain, were novel.
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ABCC7 p.Met469Ile 15905293:7:63
status: NEW107 These novel mutations include p.M469I (1539G .
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ABCC7 p.Met469Ile 15905293:107:32
status: NEW115 Although the p.M469I mutation has never been reported, mutation at the same amino acid, p.M469V, has been found in CBAVD patients (http://genet.sickkids.on.ca).
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ABCC7 p.Met469Ile 15905293:115:15
status: NEW155 T (p.M469I); arrow 2 = c.1408A .
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ABCC7 p.Met469Ile 15905293:155:5
status: NEW
No.
Sentence
Comment
5
M469I mutation was observed for the first time in Taiwanese patients.
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ABCC7 p.Met469Ile 25246892:5:0
status: NEW7 Objective: In this study, we aimed in designing a rapid, reliable RFLP-PCR procedure for detection of M469I mutation.
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ABCC7 p.Met469Ile 25246892:7:102
status: NEW8 The correlation and association between M469I mutation with infertility was investigated in this study. Materials and Methods: one hundred ten patients (90 non obstructive and 20 obstructive) and 60 normal individuals were considered in this study.
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ABCC7 p.Met469Ile 25246892:8:40
status: NEW9 M469I mutation was detected using RFLP-PCR.
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ABCC7 p.Met469Ile 25246892:9:0
status: NEW10 This technique was completely designed for M469I genotyping, for the first time in our study.
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ABCC7 p.Met469Ile 25246892:10:43
status: NEW14 M469I mutation was observed only in patients group.
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ABCC7 p.Met469Ile 25246892:14:0
status: NEW16 Conclusion: The M469I mutation has only been observed in Exon 10 CFTR gene of infertile patients, not in the control group.
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ABCC7 p.Met469Ile 25246892:16:16
status: NEW18 This indicates a strong association between the M469I mutation and male infertility. Therefore, this is a CF-causing CFTR mutation that could be considered as a cause of infertility.
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ABCC7 p.Met469Ile 25246892:18:48
status: NEW53 Here, a procedure based on PCR was designed for rapid detection of M469I mutation.
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ABCC7 p.Met469Ile 25246892:53:67
status: NEW73 The location of the M469I mutation was also determined in this exon.
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ABCC7 p.Met469Ile 25246892:73:20
status: NEW77 The polymorphism that produced by the M469I mutation also does not produce any cut site for the NdeI.
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ABCC7 p.Met469Ile 25246892:77:38
status: NEW79 The amplification of exon 10 will produce a fragment that contains an NdeI cut site, if there is no M469I mutation in this region.
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ABCC7 p.Met469Ile 25246892:79:100
status: NEW80 In the presence of M469I CFTR mutation and infertility Iranian Journal of Reproductive Medicine Vol. 10.
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ABCC7 p.Met469Ile 25246892:80:19
status: NEW85 RFLP-PCR The region in proximity of the M469I mutation was amplified by specific designed primers (Table I), using Ependorf PCR machine (Germany).
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ABCC7 p.Met469Ile 25246892:85:40
status: NEW88 Statistical analysis Three GG, GT, TT genotypes for M469I polymorphism was studied here by RFLP technique.
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ABCC7 p.Met469Ile 25246892:88:52
status: NEW90 Results The PCR was carried out using the isolated DNA as template and designed primers, CF- M469I-F and CF-M469I-R.
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ABCC7 p.Met469Ile 25246892:90:93
status: NEWX
ABCC7 p.Met469Ile 25246892:90:108
status: NEW97 So this azoospermia patient carries two non-identical alleles, including one T that indicates the M469I mutated allele and one G that indicates the normal or wild type allele.
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ABCC7 p.Met469Ile 25246892:97:98
status: NEW101 The M469I mutation was studied here by RFLP-PCR.
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ABCC7 p.Met469Ile 25246892:101:4
status: NEW119 M469I SNP detection in exon 10 of CFTR gene using RFLP-PCR reaction.
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ABCC7 p.Met469Ile 25246892:119:0
status: NEW120 A set of specific designed primers (CF-M469I-F and CF-M469I-R) were used for amplification of some part of exon 10 of the CFTR gene.
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ABCC7 p.Met469Ile 25246892:120:39
status: NEWX
ABCC7 p.Met469Ile 25246892:120:54
status: NEW125 I heterozygote infertile patient (GT: M469I), II uncut PCR product, III a normal homozygote GG person.
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ABCC7 p.Met469Ile 25246892:125:38
status: NEW128 M469I mutation that occurs in NBD1 was observed for the first time in Taiwanese patients in 2005.
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ABCC7 p.Met469Ile 25246892:128:0
status: NEW129 They included 36 CBAVD patients in their study; one of them was detected to have M469I mutation.
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ABCC7 p.Met469Ile 25246892:129:81
status: NEW147 The purpose of this study was investigation of the existence of M469I mutation in Iran's population.
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ABCC7 p.Met469Ile 25246892:147:64
status: NEW149 Here we screened one hundred azoospermia infertile male for the existence of the M469I mutation.
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ABCC7 p.Met469Ile 25246892:149:81
status: NEW154 When M469I mutation occurs in nucleotide binding domain of CFTR gene, it damages the normal structure of transmembrane protein.
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ABCC7 p.Met469Ile 25246892:154:5
status: NEW156 This indicates a strong association between the M469I mutation and male infertility.
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ABCC7 p.Met469Ile 25246892:156:48
status: NEW159 So M469I could be used in genetic counseling and pre-implantation genetic detection, to prevent from further fertility recurrence in successive generations.
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ABCC7 p.Met469Ile 25246892:159:3
status: NEW