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非综合征性腭裂的遗传学洞察。

An insight into genetics of non-syndromic cleft palate.

作者信息

Nouri Nayereh, Karimi Padideh, Mansoor Salehi, Memarzadeh Mehrdad, Ganji Hamid, Sedghi Maryam

机构信息

Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran ; Pediatric Inherited Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

出版信息

Adv Biomed Res. 2013 Mar 6;2:6. doi: 10.4103/2277-9175.107969. Print 2013.

DOI:10.4103/2277-9175.107969
PMID:23930251
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3732890/
Abstract

Our proband is a 29-year-old man, who is affected with soft cleft palate and hypernasality. A study of about six generations of this family pedigree shows that cleft palate has repeatedly occurred in males, with probably a X-linked recessive pattern of inheritance. Interestingly, the sister of the proband is affected with hypernasality and she has an affected son. This is the first report of X-linked inheritance pattern of cleft palate in Iran.

摘要

我们的先证者是一名29岁男性,患有软腭裂和鼻音过重。对这个家族谱系大约六代人的研究表明,腭裂在男性中反复出现,可能呈X连锁隐性遗传模式。有趣的是,先证者的姐姐患有鼻音过重,并且她有一个患病的儿子。这是伊朗关于腭裂X连锁遗传模式的首次报道。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/addb/3732890/ed01cdef8e5a/ABR-2-6-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/addb/3732890/ed01cdef8e5a/ABR-2-6-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/addb/3732890/ed01cdef8e5a/ABR-2-6-g001.jpg

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本文引用的文献

1
Current concepts in genetics of nonsyndromic clefts.非综合征性腭裂遗传学的当前概念。
Indian J Plast Surg. 2009 Jan-Jun;42(1):68-81. doi: 10.4103/0970-0358.53004.
2
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.来自三个人群的腭裂病例-父母三联体中TCOF1标记物的母体过度传递。
Am J Med Genet A. 2008 Sep 15;146A(18):2327-31. doi: 10.1002/ajmg.a.32302.
3
The complex genetics of cleft lip and palate.唇腭裂的复杂遗传学
Eur J Orthod. 2004 Feb;26(1):7-16. doi: 10.1093/ejo/26.1.7.
4
TBX22 mutations are a frequent cause of cleft palate.TBX22基因突变是腭裂的常见病因。
J Med Genet. 2004 Jan;41(1):68-74. doi: 10.1136/jmg.2003.010868.
5
Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts.唇腭裂的遗传学:综合征性基因导致非综合征性唇腭裂的发生。
Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R73-81. doi: 10.1093/hmg/ddh052. Epub 2004 Jan 13.
6
Isolation and developmental expression analysis of Tbx22, the mouse homolog of the human X-linked cleft palate gene.人类X连锁腭裂基因的小鼠同源物Tbx22的分离及发育表达分析
Dev Dyn. 2002 Nov;225(3):322-6. doi: 10.1002/dvdy.10154.
7
Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region.
Hum Genet. 2001 Jun;108(6):537-45. doi: 10.1007/s004390100518.
8
Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and Ankyloglossia (CPX) critical region.KLHL4的鉴定与特征分析,它是果蝇Kelch基因的一种新型人类同源物,定位于X连锁腭裂和舌系带过短(CPX)关键区域内。
Genomics. 2001 Mar 1;72(2):128-36. doi: 10.1006/geno.2000.6478.
9
X inactivation in females with X-linked disease.患有X连锁疾病女性的X染色体失活
N Engl J Med. 1998 Jan 29;338(5):325-8. doi: 10.1056/NEJM199801293380611.
10
Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3.对X连锁腭裂和舌系带过短基因座(CPX)进行精细定位并构建酵母人工染色体(YAC)连续克隆系,该基因座包括Xq21.3内近端X-Y同源性断裂点。
Genomics. 1996 Jan 1;31(1):36-43. doi: 10.1006/geno.1996.0006.