Epidemiological study and candidate gene analysis of cleft lip and /or plate in Japanese patients

日本唇裂和/或板裂患者流行病学研究及候选基因分析

• 批准号: 10671903
• 负责人: YAMAZAKI Yasuharu
• 金额: $ 1.73万
• 依托单位: Kitasato University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1998
• 资助国家: 日本
• 起止时间: 1998 至 1999
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-10671903/
• 关键词: cleft lip and; or plate; multifactorial diseases; combined malformation

1. Epidemiological study of 467 cleft lip and /or plate patients in Kitasato Univ. 25 years In the past: (1) Sex, (2) Age when operating, (3) Birthplace, (4) Multifactorial diseases, (5) Birth Order, (6) Lineage appearance rate & Brothers appearance rate, (7) Classification of Cleft (bilateral/unilateral cleft lip and palate, cleft hard and soft palate, cleft soft palate, submucous cleft palate), (8) Change at annuals of operation number.Results; (1) Sex- male: female=249:217 (2) Age when operating- average: seven months a years old, (3) Birthplace- Kanagawa Pref, 78.4%, (4) Multifactorial diseases- 92cases 19.7%, (5) Birth Order- the first child: 191cases 40.9%, the second child: 203cases 43.5%, the third child: 67cases 14.3%, the fourth child: 5cases 1.1%, (6) Lineage appearance rate -16.5%, (7) bilateral/unilateral cleft lip and palate: 254cases 43.5%,, cleft hard and soft palate: 73cases 15.6%, cleft soft palate: 93cases 19.9%, submucous cleft palate: 10cases 10.1%, (8) Change at annuals of operation number-average during year: 20cases.2. Investigation of multifactorial diseases appearance rate in each cleft and lineage appearance rate: (1) Multifactorial diseases-Total appearance rate: 94/467 20.1%, cleft lip and palate: 29/251 11.6%, cleft hard and soft palate: 28/55 50.9%, cleft soft palate: 24/92 26.1%, submucous cleft palate: 9/48 18.8%. (2) Lineage appearance rate-36/218 16.5%. High multifactorial diseases appearance rate (61/195 31.1%) was observed in isolated cleft palate.3. Candidate gene analysis of cleft lip and /or plate in Japanese patients:We are examining HLA class I (HLA-B) and class II alleles (HLA-DRB1 and DPB1) in Japanese patients with CL/P using high resolution DNA typing methods. At present, the result has not come out yet.

1. 25年来北中大学467例唇腭裂患者的流行病学调查：(1)性别，(2)手术年龄，(3)出生地，(4)多因素疾病，(5)出生顺序，(6)世系外观率及兄弟外观率，(7)唇裂分类（双侧/单侧唇腭裂、软硬腭裂、软腭裂、粘膜下腭裂），(8)手术次数年变化。(1)性别-男：女=249:217(2)手术年龄-平均：7个月，(3)出生地-神奈川县78.4%,(4)多因素疾病- 92例19.7%,(5)出生顺序-第一胎191例40.9%，第二胎203例43.5%，第三胎67例14.3%，第四胎5例1.1%,(6)血统外观率-16.5%,(7)双侧/单侧唇腭裂254例43.5%，软硬裂73例15.6%，软腭裂：1 .黏膜下腭裂93例（19.9%），10例（10.1%）；各腭裂多因素疾病表现率及谱系表现率调查：(1)多因素疾病-总表现率94/467 20.1%，唇腭裂29/251 11.6%，软硬腭裂28/55 50.9%，软腭裂24/92 26.1%，粘膜下腭裂9/48 18.8%。(2)血统出现率-36/218 16.5%。2 .孤立性腭裂多因素疾病发生率高（61/195,31.1%）。日本唇裂和/或平板患者的候选基因分析：我们正在使用高分辨率DNA分型方法检测日本CL/P患者的HLA I类（HLA- b）和II类等位基因（HLA- drb1和DPB1）。目前，结果还没有出来。

项目成果

山崎安晴: "唇裂鼻の治療-臨床像と手術-(分担)"克誠堂(印刷中). (2000)

Yasuharu Yamazaki：“唇裂和鼻裂的治疗 - 临床特征和手术 - （合著者）”Kuseido（出版中）（2000 年）。

中北信昭: "三角弁法による片側不完全口唇裂初回手術後の患側上唇下垂について" 日本形成外科学会会誌. 19(2)(印刷中). (1999)

Nobuaki Nakakita：“使用三角瓣法进行单侧不完全唇裂初次手术后患侧上唇下垂”，日本整形外科学会杂志 19(2)（出版中）。

Masahiro Mori: "Restoration of segmental radial clefects in rabbit by bio degradable capsules containing recombinant human bone morphogentic protein-2" J.Biomed.Mater.Res. (in press). (1999)

Masahiro Mori：“通过含有重组人骨形态发生蛋白 2 的生物可降解胶囊修复兔节段性桡骨裂痕”J.Biomed.Mater.Res。

N. Nakakita: "Augmentation Rhinoplasty by using L-shaped auricular cartilage Frame work with demol-fat grraft for cleft lip nose."Aesthetic Plastic Surgery. 23. 107-112 (1999)

N. Nakakita：“使用 L 形耳廓软骨框架和脱脂脂肪移植物进行鼻部整形术，治疗唇裂鼻。”美容整形外科。

Nobuaki Nakakita, Kouichirou Sezaki, Yasuharu Yamazaki, Eiju Uchinuma: "The cause of long lip deformity in unilateral incomplete cleft lip cases following triangular flap repair"J.Jpn.P.R.S.. 19. 71-79 (1999)

Nobuaki Nakakita、Kouichirou Sezaki、Yasuharu Yamazaki、Eiju Uchinuma：“三角瓣修复后单侧不完全唇裂病例中长唇畸形的原因”J.Jpn.P.R.S.. 19. 71-79 (1999)