简介:AIM:Tostudyclinicalfeaturesandgenemutationswithinthepaired-likehomeodomaintranscriptionfactor2(PITX2)geneinapedigreeofbilaterallimbaldermoids.METHODS:Completeeyeexaminationshavebeenperformedoneachindividualofthefamily.Exonsofpaired-likehomeodomaintranscriptionfactor2(PITX2)wereamplifiedbypolymerasechainreaction,sequenced,andcomparedwithareferencedatabase.RESULTS:Wedescribedthephenotype,clinicfindingsinafamilywithtwoaffectedmembers.Themassesoftheproband’seyeswereexcisedsurgicallydemonstratingadermoidcystbyhistopathologicalexamination.NomutationwasdetectedinthegenePITX2inthispedigree.CONCLUSION:Afamilyoflimbaldermoidcystwasreported.Inaddition,nopathogenicsequencevariationswerefoundinPITX2,indicatingthatthisphenotypeinthisfamilyisadistinctiveentity.
简介:乳酸菌培养是乳酸菌应用的关键技术。传统的乳酸菌培养采用游离细胞悬浮培养,生产效率低,细胞密度低,细胞分离难,成本高。微囊化乳酸菌避免了传统悬浮发酵剂的缺点和限制,细胞密度可超过10cfu/g,从培养基中分离细胞不需经过超滤或冷冻离心,而用普通的离心或过滤就可进行,因此大大降低了生产成本。另外,微囊化细胞技术可以防止氧对双歧杆菌的伤害,防止噬菌体的感染,以及在冷冻过程中有很好的保护作用,用于浓缩乳酸菌生产效果比较显著。本文主要是从囊内细胞初始浓度的影响、壳聚糖包膜后细胞的定时更换培养基连续培养过程中囊内细胞的增长、增殖培养基的筛选等方面对囊内乳酸菌的浓缩培养进行了研究。
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