Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate.
Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate.
复制标题
转化生长因子α的遗传变异与唇裂和腭裂之间存在关联的进一步证据。
DOI：
--
复制
发表时间：
1991
影响因子：
9.8
通讯作者：
N. Martin
中科院分区：
文献类型：
--
作者：
G. Chenevix;K. Jones;A. Green;N. Martin
Ardinger et al.（1989）假设在腭裂形成中起作用的候选基因的裂型和RFLP之间可能存在非随机关联。他们报告了80例非综合征性唇腭裂（CLIP）患者和102例对照组中转化生长因子α（TGF α）的两个RFLP与唇裂之间的显著相关性（TaqI RFLP P = 0.0047，BamHI RFLP P = 0.0052）。然而，在另一项对CLI P以显性方式分离的7个家族的研究中，未观察到Ardinger等报道的TGF α单倍型关联，并且在一个家族中，裂型与TGF α不共分离，排除了这些家族中的紧密连锁（Hecht等，1990）。我们对96例无亲缘关系的CLIP非综合征患者和100例无亲缘关系的对照者进行了TaqI RFLP基因分型。在这些患者中，62例（65%）为男性，94例信息可用的患者中有48例（51%）有CLIP家族史（n = 44）或单纯腭裂（n = 4）。有家族性唇腭裂病史的患者比例很高，这可能反映了我们的确定方法（主要是通过我们鼓励家族性病例参与的报纸文章）。20例患者（21%）为双侧CL + P，51例（54%）为单侧CL + P，4例（4%）为双侧CL，19例（20%）
Ardinger et al. (1989) hypothesized that there might be a nonrandom association between clefting and RFLPs of candidate genes which have a role in palate formation. They reported a significant association between two RFLPs of transforming growth-factor alpha (TGFa) and clefting in a group of 80 patients with nonsyndromic cleft lip with or without cleft palate (CLIP) and in a group of 102 controls (P = .0047 for the TaqI RFLP, and P = .0052 for the BamHI RFLP). However, in another study of seven families with CLI P segregating in a dominant manner, none of the TGFa haplotype associations reported by Ardinger et al. was seen, and, in one family, clefting did not cosegregate with TGFa, ruling out tight linkage in these families (Hecht et al. 1990). We have genotyped the TaqI RFLP in 96 unrelated nonsyndromic patients with CLIP and in 100 unrelated controls. Of the patients, 62 (65%) were male, and 48 (51%) of the 94 for whom information was available had a family history of CLIP (n = 44) or cleft palate alone (n = 4). The high percentage of patients with a family history of clefting probably reflects our method of ascertainment (mainly through newspaper articles in which we encouraged participation from familial cases). There were 20 patients (21 % ) with bilateral CL + P, 51 (54%) with unilateral CL + P, four (4%) with bilateral CL, and 19 (20%)
转化生长因子-α基因的遗传变异与唇裂和腭裂的关联。
影响因子：
9.8
作者：
Ardinger,HH;Buetow,KH;Bell,GI;Bardach,J;VanDemark,DR;Murray,JC
通讯作者：
Murray,JC