Molecular basis of β-thalassemia in indonesia: Application to prenatal diagnosis*

Setianingsih, Iswari; Williamson, Robert; Marzuk, Sangkot; Harahap, Alida; Tamam, Moedrik; Forrest, Susan M.

doi:10.1016/s1084-8592(98)80022-2

Cited by 23 publications

(19 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…25 A study in the United States demonstrated that there was a significant difference of disease-free survival associated with noncancer related health conditions between the white and Afro-American colorectal cancer patients. 26 In the present study, ethnicity data was easily-traced because almost all of the subjects were domiciled near to their place of birth. However, the present study was not aimed to make any correlation or comparison among those ethnic groups (Javanese, Sundanese, Macassarese and Minangkabau).…”

Section: Discussionmentioning

confidence: 95%

Colorectal cancer among young native Indonesians: A clinicopathological and molecular assessment on microsatellite instability

Sudoyo¹,

Hernowo

Krisnuhoni³

et al. 2010

Med J Indones

View full text Add to dashboard Cite

Aim: To obtain clinicopathological characteristics of colorectal cancer among young native Indonesians and to assess MLH1, MSH2, and SMAD4 protein expressions, comparing them with a matched population of colorectal cancer patients aged 60 years old and older.Methods: Medical records of colorectal cancer patients aged 40 years or younger and 60 years or older from several hospitals in three Indonesian cities -Jakarta, Makassar, and Bandung -were reviewed. The "native" ethnic groups were selected from those originating from Java, Makassar (South Celebes), Miinangkabau (West Sumatra). Ethnicity of 121 colorectal carcinoma patients was confirmed by fulfilling requirements in a questionnaire. Tumor specimens of those patients underwent evaluation for histopathology, tumor grading as well as immunohistochemical analysis to assess MLH1, MSH2 protein expressions to detect microsatellite instability mutation pathway and SMAD4 protein expression to reconfirm that the specimens were not microsatellite instability origin.Results: There were 121 colorectal carcinoma cases of Sundanese, Javanese, Macassarese and Minangkabau ethnic group. This study indicated that colorectal cancer has statistically different grade (p = 0.001) between the young and the older patients. Immunohistochemical staining for MSH2 protein and MLH1 were done for 92 and 97 specimens respectively. There was no significant difference between the expressions of MLH1 and MSH2 on tumor grading, indicated there was no correlation between microsatellite instability and tumor grading in this study. Conclusion:Colorectal cancer in young native Indonesian patients (40 years old or less) was not different in clinicopathological characteristics compared to older patients (60 years old or more) in similar ethnic groups. There was also no difference in MSH2 and MLH1 protein expressions, important indicators of microsatellite instability and .

show abstract

Section: Discussionmentioning

confidence: 95%

Colorectal cancer among young native Indonesians: A clinicopathological and molecular assessment on microsatellite instability

Sudoyo¹,

Hernowo

Krisnuhoni³

et al. 2010

Med J Indones

View full text Add to dashboard Cite

show abstract

“…The low level of HbO in TRJ-21 could be caused by the co-inheritance of the HbO mutation with a -thalassemia mutation. However, DNA analysis for -globin gene defects could not detect any of the 19 most common -thalassemia mutations in Indonesia (Setianingsih et al 1998). It is interesting to note that the mother of TRJ-21 showed a HbO level of 13%, while the father showed normal red cell indices and hemoglobin pattern.…”

Section: Methodsmentioning

confidence: 96%

The Hemoglobin O mutation in Indonesia: distribution and phenotypic expression

et al. 2001

View full text Add to dashboard Cite

We have investigated hemoglobin O Indonesia (HbO Ina ) in related ethnic populations of the Indonesian archipelago: 1725 individuals of the five ethnic populations of South Sulawesi (Bugis, Toraja, Makassar, Mandar, and Kajang) and 959 individuals of the neighboring islands, who were divided into five phylogenetic groups: (a) Batak; (b) Malay from Padang, Pakanbaru, and Palembang in the island of Sumatra; (c) Javanese-related populations (Java, Tengger, and Bali) from the islands of Java and Bali; (d) populations of the Lesser Sunda Islands of Lombok, Sumba, and Sumbawa; and (e) the Papuan-languagespeaking population of Alor Island. Nineteen individuals heterozygous for HbO Ina were identified from the Bugis, Toraja, Makassar, and Kajang ethnic populations, but none from the other populations. In all cases, the underlying mutation was found to be in codon 116 (GAG to AAG) of the α 1 -globin gene, resulting in the Glu116Lys amino acid change. The level of HbO in the 17 individuals plus 12 additional family members carrying the mutation was found to be 11.6 Ϯ 1.0%, significantly lower than the expected 17%-22%, indicating the instability of HbO.

show abstract

“…However, the authors suggested that as their gene mapping analyses indicated that the deletion removed a region of more than 105 kb instead of 45 kb as was originally reported, it was possible that two different large β-thalassemia deletions exist with an identical 5' breakpoint and different 3' breakpoints. Finally, Setianingsih reported the finding of three patients from the island of South Celebes, Indonesia to be compound heterozygote for the deletion (Setianingsih et al, 1998).…”

Section: Resultsmentioning

confidence: 99%

A single, large deletion accounts for all the ?-globin gene mutations in twenty families from Sabah (North Borneo), Malaysia

et al. 1999

View full text Add to dashboard Cite

Molecular basis of β-thalassemia in indonesia: Application to prenatal diagnosis*

Cited by 23 publications

References 21 publications

Colorectal cancer among young native Indonesians: A clinicopathological and molecular assessment on microsatellite instability

Colorectal cancer among young native Indonesians: A clinicopathological and molecular assessment on microsatellite instability

The Hemoglobin O mutation in Indonesia: distribution and phenotypic expression

A single, large deletion accounts for all the ?-globin gene mutations in twenty families from Sabah (North Borneo), Malaysia

Contact Info

Product

Resources

About